---
title: "Prenatal care and testing at Sutter Health"
description: "Sutter’s prenatal testing offers comprehensive screenings and diagnostic tests to give you information needed to support a healthy pregnancy and birth."
url: "https://www.sutterhealth.org/services/prenatal-care-and-testing"
---

1.  [Home](https://www.sutterhealth.org/) /
2.  [Services](https://www.sutterhealth.org/services) /
3.  Prenatal care and testing

# Prenatal care and testing

A healthy pregnancy starts with top-notch prenatal care and comprehensive testing. We guide people through the entire pregnancy journey with preconception advice, regular check-ups and recommended tests.

[Find an OB/Gyn](https://www.sutterhealth.org/find-provider-results?facets=%5B%7B%22i%22%3A%22c_providerSpecialties.specialty.name%22%2C%22v%22%3A%5B%22Obstetrics+and+Gynecology%22%5D%7D%5D&limit=10&staticFilters=%5B%7B%22displayName%22%3A%22Sutter+Health+provider%22%2C%22selected%22%3Atrue%2C%22filter%22%3A%7B%22kind%22%3A%22fieldValue%22%2C%22fieldId%22%3A%22c_providerIsSutterHealth%22%2C%22matcher%22%3A%22%24eq%22%2C%22value%22%3Atrue%7D%7D%5D&verticalKey=healthcare_professionals)

[Book an appointment](https://www.sutterhealth.org/book-appointment)

## Why choose Sutter?

Pregnancy is full of firsts, from hearing the first heartbeat to meeting your baby. We’re here to support you with advanced care and prenatal tests through every developmental milestone. 

If you encounter challenges during your pregnancy, our maternal fetal specialists use the latest developments in diagnostic tests and imaging to determine the best course of treatment. We also provide genetic testing and counseling to address concerns about birth defects or inherited disease risks.

To support your mental health during pregnancy, we offer holistic services like prenatal yoga, massage and nutrition counseling. You’ll also find childbirth and breastfeeding classes, group prenatal care and support programs for parents of multiples or babies with birth defects.

## By the numbers

### 400+

care team members

including obstetricians, nurses and midwives offer pregnancy and childbirth care.

### 16

birth centers

awarded for high standards in keeping moms and babies safe and off to the best start.

### 7

NICUs

offer top quality critical care for our littlest patients from highly trained neonatal specialists.

### 26,000+

babies born

at our award-winning birth centers each year.

## Conditions

-   [Gestational diabetes](https://www.sutterhealth.org/services/gestational-diabetes-care)

## Diagnostics

-   Amniocentesis
-   Antepartum Fetal Surveillance
-   Biophysical Profile Test
-   Chorionic Villus Sampling
-   Drug testing
-   Expanded Carrier Screening
-   Genetic Counseling for Pregnancy Screening
-   Integrated Screening Test
-   [Non-Invasive Prenatal Testing](https://www.sutterhealth.org/services/prenatal-care-and-testing)
-   Nuchal Translucency Scan

## Treatments

-   Fetal Therapy
-   [Nutritional support](https://www.sutterhealth.org/services/nutrition)

## Guidance for every stage of pregnancy 

Learn what to expect, how to prepare and where to find the care that fits your needs.

[Pregnancy and baby guide](https://www.sutterhealth.org/health/pregnancy-baby-guide)

![doctor-stethescope-infant](https://edge.sitecorecloud.io/sutterhealt962c-sutterhealt8fce-production57cc-4860/media/Project/SutterHealth/SutterHealth/Images/people/babies/doctor-stethescope-infant.jpg?h=600&iar=0&w=800)

## Maternal and infant health research

Maternal and infant health research aims to improve reproduction by increasing full-term pregnancies, ensuring healthy births and supporting mothers and babies after birth.

[View clinical trials](https://www.sutterhealth.org/research-search-results?facets=%5B%7B%22i%22%3A%22c_researchTopics.name%22%2C%22v%22%3A%5B%22Maternal+and+Infant+Health%22%5D%7D%5D&verticalKey=clinical_trial)

![doctor-stethescope-infant](https://edge.sitecorecloud.io/sutterhealt962c-sutterhealt8fce-production57cc-4860/media/Project/SutterHealth/SutterHealth/Images/people/babies/doctor-stethescope-infant.jpg?h=600&iar=0&w=800)

Reproductive genetic testing 

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## Classes & events

[View all classes & events](https://www.sutterhealth.org/patient-resources/find-event-results?limit=10&query=%22%5C%22Pregnancy%5C%22%22&verticalKey=events)

-   Class, Event, Tour
    
    ### [Breastfeeding Basics - Sacramento 11/3 at 5:30pm](https://ewp.seatrobot.com/66f32bee33ea82483f1ddb0b/6abc0fbaed41bd5868d2e1a7/)
    
    Tuesday, November 3, 2026
    
    OPEN TO THE COMMUNITY! Sutter Parent Education is offering a single information packed class, which prepares the new family for breast/chest feeding.
    
-   Class, Support Group
    
    ### [The Village--Postpartum Support](https://ewp.seatrobot.com/66f32bee33ea82483f1ddb0b/6a9715c4da48088fb94a28da/)
    
    Wednesday, November 4, 2026
    
    This is a topic-led Virtual Support group for all things Postpartum. Expecting and new moms welcome!
    
-   Class, Event, Tour
    
    ### [Sutter Sacramento Maternity Tour and Orientation 11/5 at 3:30pm](https://ewp.seatrobot.com/66f32bee33ea82483f1ddb0b/6abc10c1b937a79047b4bcf3/)
    
    Thursday, November 5, 2026
    
    Tour the Labor & Delivery and Postpartum units of the hospital you are delivering at with your partner/support person.
    

[View all classes & events](https://www.sutterhealth.org/patient-resources/find-event-results?limit=10&query=%22%5C%22Pregnancy%5C%22%22&verticalKey=events)

## Sutter spotlight

Health & wellness

### [Genetic Screening](https://www.sutterhealth.org/health/genetic-screening)

Some tests can give you more information about your baby’s health and development.

Health & wellness

### [Amniocentesis](https://www.sutterhealth.org/health/amniocentesis)

This safe, accurate prenatal test provides key insights about your baby’s health and development.

Health & wellness

### [First Trimester Prenatal Tests](https://www.sutterhealth.org/health/first-trimester-prenatal-tests)

Learn what prenatal tests to expect during early pregnancy.

## Frequently asked questions

**What factors qualify a high-risk pregnancy?**

There are many factors that can qualify a high-risk pregnancy. Including:

-   Being over age 35, and sometimes under age 17
-   Carrying multiples (twins, triplets or more)
-   Carrying a baby with a known birth defect
-   Developing a pregnancy complication such as gestational diabetes and preeclampsia or problems with the uterus, cervix or placenta
-   Having a chronic medical condition known to impact pregnancy, such as diabetes, high blood pressure, kidney disease or epilepsy
-   Having one or more risk factors for a birth defect, such as a family history of genetic disorder
-   Having a viral or bacterial disease that could pose a risk to your baby, such as hepatitis C, rubella, HIV, cytomegalovirus, chickenpox, toxoplasmosis or syphilis
-   Having had several miscarriages
-   Having Rh sensitization 
-   Having taken a drug during pregnancy known to impact fetal development
-   Going through cancer treatment during pregnancy
-   Previously having a premature birth or high-risk pregnancy  
     

**How accurate are integrated testing results?**

Full integrated screening has the highest accuracy in detecting increased risk of birth defects. In general, all three tests (two blood tests and the NT ultrasound) combine for an accuracy of:

-   97% for anencephaly
-   90% for Down syndrome
-   85% for abdominal wall defects
-   81% for trisomy 18
-   80% for spina bifida
-   60% for Smith-Lemli-Opitz Syndrome (SLOS)

Serum (blood) integrated screening has an accuracy of:

-   97% for anencephaly
-   85% for Down syndrome
-   85% for abdominal wall defects
-   80% for spina bifida
-   79% for trisomy 18
-   60% for Smith-Lemli-Opitz Syndrome (SLOS)  
     

**How accurate is NIPT?**

Research studies show that NIPT correctly identifies women carrying fetuses with Down syndrome as “high risk” 99% of the time. Its sensitivity is lower for trisomy 18, trisomy 13 and sex chromosomal differences.

**Who should meet with a genetic counselor?**

You may benefit from genetic counseling and prenatal testing if:

-   You’re pregnant and under age 35, but would like more accurate screening for Down syndrome.
-   You’re pregnant and will be 35 years or older on your due date.
-   You’re pregnant and have an abnormal screening test result, like a positive expanded AFP blood or integrated screening result.
-   You’re a carrier of an X-linked disease such as Fragile X, hemophilia or muscular dystrophy.
-   You’ve had an ultrasound of your fetus showing a possible birth defect.
-   You have a child or other close relative with a birth defect or genetic disease.
-   You’ve been exposed to medications, X-rays, infections or other agents during your pregnancy that may be harmful to the developing fetus.
-   You’ve had a miscarriage or death of a child.
-   You have a current health issue that could complicate your pregnancy.
-   You and your partner are carriers of a recessively inherited disease such as Tay-Sachs, sickle cell anemia, cystic fibrosis or thalassemia. 
-   You and your partner are closely related to each other (such as first cousins).

## Support through your pregnancy

Find trusted care at Sutter, with personalized guidance, routine checkups and advanced testing at every stage.

[Find an OB/Gyn](https://www.sutterhealth.org/find-provider-results?facets=%5B%7B%22i%22%3A%22c_providerSpecialties.specialty.name%22%2C%22v%22%3A%5B%22Obstetrics+and+Gynecology%22%5D%7D%5D&limit=10&staticFilters=%5B%7B%22displayName%22%3A%22Sutter+Health+provider%22%2C%22selected%22%3Atrue%2C%22filter%22%3A%7B%22kind%22%3A%22fieldValue%22%2C%22fieldId%22%3A%22c_providerIsSutterHealth%22%2C%22matcher%22%3A%22%24eq%22%2C%22value%22%3Atrue%7D%7D%5D&verticalKey=healthcare_professionals)

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{"@context":"https://schema.org","@type":"VideoObject","name":"Reproductive Genetic Testing: Introduction & Overview","thumbnailUrl":"https://cf-images.us-east-1.prod.boltdns.net/v1/static/817826402001/5edc1773-8411-4104-9fa6-daad182ae0d1/d9db7ee7-2b74-4e93-9a50-b2e358938faf/1280x720/match/image.jpg","uploadDate":"2023-08-17T20:45:43.264Z","embedUrl":"https://players.brightcove.net/817826402001/79bcaa57-54d7-453c-9f1f-8ab3ef7b15de/index.html?videoId=6334109400112","description":"An overview of genetic conditions that can occur for a fetus during pregnancy and the testing that can identify many of them. Topics include ultrasound, screening tests, diagnostic tests, and carrier screening.","duration":"PT9M5S","transcript":"[MUSIC PLAYING]\nSPEAKER: This video will review of different genetic conditions\nthat can occur for a fetus during pregnancy\nand the testing that can identify many of them.\nPlease keep in mind that even though we\nare focusing on these conditions,\nthey're unlikely to arise during your pregnancy.\nApproximately 97% of all births result\nin a baby being born with no birth defects.\nOf the remaining 3%, some of those\nare due to genetic causes, while others are not genetic.\nIf you have specific concerns regarding\nhigh risk, positive results, have a family history\nof a genetic condition, or have questions or topics\nyou would like to discuss in more detail,\nplease speak with your medical provider or ask for a referral\nto a genetic counselor.\n\nOur bodies are made of trillions of cells.\nWithin most of our cells we have chromosomes.\nChromosomes are made of long strings of DNA\nwhich contain all of our genes.\nGenes provide the instructions that tell our bodies how\nto grow, form, and function.\nIt is estimated that humans have about 20,000 genes.\nPeople typically have 46 chromosomes\nwhich come in pairs, meaning 23 different chromosomes.\nNumbers 1 through 22 are generally\nthe same in all people.\nThe last pair are the sex chromosomes.\nWhen there are two X chromosomes,\nthat person is typically female.\nWhen there is an X and a Y chromosome,\nthat person is typically male.\nYou can think of a chromosome like a book.\nMost humans have a collection of 46 books.\nThe DNA is all the pages within those books,\nand the genes are the paragraphs on the pages.\n\nA change in someone's genetic information\ncauses a genetic condition.\nThe change can be in the total number of chromosomes,\na small amount of DNA being missing or extra,\nor in just one single gene.\nThinking back to the book analogy,\nthere could be a different number\nof books, a few pages missing or extra,\nsome missing or extra words in a paragraph,\nor misspelled words within a paragraph.\nAny of these could be significant for how\nthe collection of books is read.\nSometimes, just by chance, an egg or a sperm\nmay contain a different number of chromosomes.\nIn our book analogy this would be\nlike a whole extra or missing book.\nA pregnancy from that egg or sperm\nwill have a chromosome condition.\nThere are various chromosome conditions\ndepending on the specific chromosomes involved.\nOne example of a chromosome condition\nis called Down syndrome.\nThe chances for chromosome conditions\nare associated with the age of the egg.\nAs the age of the egg increases, so\ndoes the risk for chromosome conditions.\nAt age 25, the chance for a chromosome condition\nis approximately 1 in 200, or about 0.5%, while at age 40,\nit is about 1 in 50, or about 2%.\nThat also means that at age 40 there\nis a 98% chance that there will not be a chromosome condition.\nIn fact, at any age the greatest chance\nis that there will not be a chromosome condition.\nGenetic conditions caused by a small amount\nof missing or extra DNA are called microdeletions\nand microduplications.\nReferring to our book analogy, this\nwould be like a book having a few missing\nor additional pages.\nAlthough the change to the total amount of DNA is small,\nthis missing or extra DNA contains\nmany genes, which can cause very significant effects.\nThe specific symptoms will vary depending\non the genes involved.\nIn general, these conditions tend to be severe.\nThe overall possibility for a pregnancy\nto have a microdeletion or microduplication\nis between 1% and 2%.\nAnd this chance does not change with age.\n\nMost microdeletion and microduplication syndromes\nare not inherited from either parent.\n\nSingle-gene conditions are caused by changes\nto just one gene.\nRecalling the book analogy one more time,\nthis would be like a word in a paragraph\non a page being misspelled, missing, or repeated,\nmaking it difficult or impossible to understand\nthat paragraph.\nFor some genes, having just one working copy is sufficient,\nand people can carry a change in a gene\nwithout ever knowing or having any symptoms of that condition.\nIt is estimated that two random individuals who are not\nrelated, have between a 1% and 6% chance of being carriers\nfor changes in the same gene.\nWhen two individuals carry changes in the same gene,\nthey have an increased chance to have\na child with that condition.\nFor other genes, just one non-working copy\nwill cause a condition.\nIn this case, the genetic parent has that condition,\nand there is a significantly increased\nchance their children will have that condition as well.\n\nThere are many tests available to provide more information\nduring pregnancy.\nThere are separate videos in this series which will review\neach test in more detail.\nWhile these tests can provide a lot of information,\nkeep in mind that no test or combination of tests\ncan guarantee a healthy pregnancy outcome.\nBut please also keep in mind that most pregnancies have\nno medical conditions regardless of how many tests\nare being performed.\nThere are both screening and diagnostic testing options\navailable during pregnancy.\nScreening tests can tell us the probability\nthat a pregnancy has certain conditions,\nbut will not provide definitive answers.\nScreening tests mostly look for the likelihood\nfor certain chromosome conditions,\nnot for microdeletions, microduplications,\nor single-gene conditions.\nResults are generally categorized as either screen\npositive, when there is a high chance the pregnancy has\na condition, or screen negative, when\nthere is a lower chance that the pregnancy has a condition.\nWith screening tests, there is a possibility\nfor the result to be incorrect.\nScreening tests are performed through a blood\ndraw of the pregnant person with no risk of miscarriage.\nUltrasound is another way to learn more about a pregnancy.\nUltrasounds are performed to confirm someone is pregnant,\nestablish a due date, and check on the anatomy, development,\nand growth of the fetus throughout the pregnancy.\nUltrasound can detect certain birth defects\nand sometimes show differences which increase suspicion\nfor a genetic condition.\nOther ultrasounds may be recommended\ndepending on various pregnancy-related factors.\nUltrasound is non-invasive and does not pose a risk\nfor harming the pregnancy.\n\nDiagnostic tests can tell us definitively\nwhether a pregnancy has specific conditions.\nDiagnostic testing is also significantly more\ncomprehensive than screening and can\ndetect chromosome conditions, microdeletion,\nand microduplication syndromes, and can also\nlook for single-gene conditions if indicated.\nThe results from diagnostic testing\nprovide a yes or no answer, not a probability.\nIf the results are positive for a condition,\nthat is a diagnosis.\nIf the results are negative, that condition\nhas been ruled out.\nDiagnostic tests are performed by doing a more invasive\nprocedure where cells from the placenta or amniotic fluid\nare collected and used for analysis.\nDiagnostic tests involve a procedure-related risk\nfor miscarriage, which is generally\nquoted as between 1 and 455, or about 0.2%, and 1 in 900,\nor about 0.1%, depending on the procedure.\nThis also means that there is about a 99.8% to 99.9% chance\nthat the procedure would not cause a miscarriage.\nOne final category of testing that can be performed\nis called carrier screening.\nThis can be performed on the genetic parents\nto determine if they carry changes in the same gene.\nThis testing can be performed before or during pregnancy.\nIf desired, diagnostic testing can\ndetermine whether the pregnancy has that condition.\nSome pregnancies may also have additional considerations\nregarding screening and diagnostic testing options.\nSome examples of these pregnancies\ninclude multiple gestation pregnancies,\nsuch as twin pregnancies, and pregnancies\nachieved via in vitro fertilization, where\nspecific risks may be elevated.\nWe hope that this introduction to genetic conditions\nand the types of testing has been valuable and informative.\nPlease watch the additional videos\nin this series for more detail about what was reviewed here.\n\nIf you feel it would help to discuss these conditions\nor tests in more detail beyond the scope of these videos,\nplease speak with your medical provider\nor request a referral for genetic counseling.\nWarmest wishes on your pregnancy journey."}
```

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```

```json
{"@context":"https://schema.org","@type":"VideoObject","name":"Reproductive Genetic Testing: Screening Tests","thumbnailUrl":"https://cf-images.us-east-1.prod.boltdns.net/v1/static/817826402001/849948a0-45d8-4320-9d27-eeea83586d37/2c5acd45-b7bb-41b4-87cf-fb5a0caf86a3/1280x720/match/image.jpg","uploadDate":"2025-08-04T21:04:55.269Z","embedUrl":"https://players.brightcove.net/817826402001/79bcaa57-54d7-453c-9f1f-8ab3ef7b15de/index.html?videoId=6376544295112","description":"An overview of common screening tests that are available during pregnancy, including cell-free DNA screening and msAFP testing.","duration":"PT5M6S","transcript":"In this video, we will be discussing\nsome of the different screening tests\navailable during pregnancy.\nScreening tests are optional and are offered to everyone\nregardless of whether the pregnancy is\nconsidered high- or low-risk.\nThese tests are typically performed through a blood\ndraw of the pregnant person and do not increase\nthe risk of miscarriage.\nScreening tests provide the likelihood\nthat a pregnancy has certain conditions.\nUnlike diagnostic testing, screening tests only\nlook for a limited number of conditions,\nthey are not definitive, and there is a possibility\nfor the result to be incorrect.\nPlease keep in mind that no test or combination of tests\ncan guarantee a healthy pregnancy outcome.\nBut please also keep in mind that most pregnancies have\nno genetic conditions regardless of how many tests are performed.\nThe two screening tests that will be covered in this video\nare cell-free DNA screening (also known as NIPT)\nand AFP screening, as well as the possible results\nand next steps.\nUltrasound and carrier screening are also\nconsidered types of screening tests.\nPlease watch the additional videos\nin this series for more detail about each of these.\nOne of the more common screening tests\nyou will be offered during pregnancy\nis called cell-free DNA screening.\nCell-free DNA screening may be referred to by many other names,\nincluding cfDNA, non-invasive prenatal testing (or NIPT),\nand non-invasive prenatal screening (or NIPS).\nEach testing company will have their own brand\nname for this test as well.\nCell-free DNA screening is performed\non a blood sample provided by the pregnant person.\nDuring pregnancy, small fragments\nof DNA from the placenta are present in the pregnant person's\nbloodstream, and cell-free DNA screening\nwill predict whether that amount is within the expected range.\nCell-free DNA screening can screen\nfor the most common chromosome conditions\nthat babies are born with, which are Down\nsyndrome, trisomy 18, trisomy 13, and X and Y chromosome\nvariations.\n\nSome versions of the test may also\ninclude screening for other conditions including\ncertain microdeletions.\nCell-free DNA screening can also predict the sex of the fetus.\nAnother common screening test is called\nAFP screening, which may also be called msAFP screening.\nAFP screening looks for the amount of a protein\ncalled alpha-fetoprotein (or AFP)\npresent in the blood of a pregnant person, which\ntends to be elevated when a pregnancy has certain birth\ndefects like open neural tube defects or abdominal wall\ndefects.\n\nThe two possible results from these screening tests are\n\"screen negative\" and \"screen positive.\"\nScreen negative means that the likelihood\nthat the fetus has any of the conditions included\nin the testing is very low.\nSince screening tests are not definitive,\nthere is a small chance for a false negative result\nwith any screening.\nThis means there is still a small chance\nthat the fetus has one of the conditions included\nin the testing even though the results are screen negative.\nSome patients with low-risk results\nmay still elect diagnostic testing\nfor more definitive answers than screening tests can provide,\nor to test for conditions beyond what\ncan be looked for with the current screening tests.\nScreen positive means that means that the likelihood\nthat the fetus has a condition is increased.\nIn this case, the results will be\nspecific about which condition the fetus\nis screen positive for.\nSince screening tests are not definitive,\nthere is a chance for a false positive result\nwith any screening.\nThis means the fetus may not have any genetic condition\neven though the results are screen positive.\nWe always note that no irreversible actions\nsuch as pregnancy termination should\nbe taken based upon a screen positive result alone.\nWhen results are screen positive,\npatients will be offered the option of follow up\ndiagnostic testing for more definitive answers\nto either diagnose a condition or rule it out.\nWe hope that this video has been valuable and informative.\nPlease watch the additional videos\nin this series for more detail about various aspects\nof genetic conditions and pregnancy.\nIf you feel it would help to discuss the conditions\nor tests in more detail beyond the scope of these videos,\nplease speak with your medical provider\nor request a referral for genetic counseling.\nWarmest wishes on your pregnancy journey!"}
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{"@context":"https://schema.org","@type":"VideoObject","name":"Reproductive Genetic Testing: Diagnostic Tests","thumbnailUrl":"https://cf-images.us-east-1.prod.boltdns.net/v1/static/817826402001/d4e248b3-68fd-4008-aed8-cbcf50468069/c93f8b01-a341-4d86-b826-4a7fce3e84d0/1280x720/match/image.jpg","uploadDate":"2024-11-22T03:36:22.788Z","embedUrl":"https://players.brightcove.net/817826402001/79bcaa57-54d7-453c-9f1f-8ab3ef7b15de/index.html?videoId=6362762540112","description":"An overview of diagnostic procedures, chorionic villus sampling (CVS) and amniocentesis, that are available during pregnancy and the testing that can be performed on the samples. ","duration":"PT5M45S","transcript":"[MUSIC PLAYING]\nNARRATOR: In this video, we will be discussing\nthe different diagnostic testing options\navailable during pregnancy.\nUnlike screening tests, diagnostic testing\nis a way to get definitive yes-or-no answers\nabout a wide range of conditions.\nDiagnostic tests are more invasive\nthan a blood test and involve a procedure-related risk\nfor miscarriage of about 0.1% to 0.2%,\nmeaning that the overall chance that diagnostic testing would\nnot cause a miscarriage is 99.8% or higher.\nWhile these tests can provide a lot of information,\nkeep in mind that no test or combination of tests\ncan guarantee a healthy pregnancy outcome.\nBut please also keep in mind that most pregnancies have\nno genetic conditions, regardless of how many\ntests are performed.\nDiagnostic testing is optional and offered to everyone,\nregardless of whether they are considered high or low risk.\nSome pursue this testing simply because it is the most\ncomprehensive and accurate.\nOthers consider diagnostic testing\nbecause of an increased risk due to an egg age, test results,\nor ultrasound findings.\nStill, others may have reasons beyond what we have listed here.\nDiagnostic testing can detect chromosome conditions like Down\nsyndrome, microdeletion and microduplication syndromes like\n22q11.2 deletion syndrome, and can look for single-gene\nconditions like cystic fibrosis, if indicated.\nThe results from diagnostic testing\neither provide a diagnosis or rule out a condition,\nrather than giving a probability.\nIf the diagnostic testing reveals a diagnosis,\nyour medical provider will discuss\noptions for that pregnancy, including\ncontinuing the pregnancy, consideration\nof any possible treatments, adoption, and pregnancy\ntermination.\nThere is no correct decision for what to do after diagnosis.\nIt is a personal choice for you and your family.\nTwo main diagnostic tests are available during pregnancy.\nOne is called chorionic villus sampling, also called CVS.\nAnd the other is called amniocentesis, or amnio,\nfor short.\nTypically, patients only do CVS or amniocentesis, not both.\nCVS involves taking a small sample\nof the placenta, which is made of cells from the pregnancy.\nUsing ultrasound as a guide, a specially trained doctor\nwill obtain a sample of the placenta.\nDepending on where the placenta is located in the uterus,\nthe doctor will either use a catheter passing\nthrough the cervix or insert a needle through the abdomen.\n\nThis placenta sample is then sent to a lab for testing.\nThe risk for miscarriage from the CVS procedure\nis approximately 1 in 455, or about 0.2%.\nWith CVS, there is also a 1% to 2%\nrisk for an ambiguous result, usually caused by the placenta\nnot having the same chromosomes as the fetus,\na phenomenon called confined placental mosaicism.\nIn these cases, amniocentesis is recommended\nto clarify the results.\nCVS is typically performed between 10 and 14\nweeks of pregnancy.\nAmniocentesis involves taking a small sample\nof amniotic fluid, which contains cells that have\ncome directly from the fetus.\nUsing ultrasound as a guide, a specially trained doctor\nwill insert a needle through the abdomen.\nThe needle does not actually touch the fetus.\nIt is only inserted as far as is needed to get the fluid.\nThis fluid is then sent to the lab for testing.\nThe risk for miscarriage from the amniocentesis procedure\nis approximately 1 in 900, or about 0.1%.\nAmniocentesis is typically performed between 16 and 22\nweeks of pregnancy.\nOne possible outcome of diagnostic testing\nis for the results to come back negative.\nNegative results mean that no mutations, variants, or changes\nwere found in the chromosome or genes analyzed.\nOr in other words, all of the conditions included in the test\nhave now been ruled out.\nIt is also possible to receive positive results, which\nmeans that a mutation, variant, or change was\nfound in the chromosomes or genes for the pregnancy.\nWhen positive, the results will be\nspecific about the condition that was found.\nA positive result on a diagnostic test\nis a diagnosis for that condition.\nA third type of result can occasionally come up as well.\nThis result is called a variant of uncertain significance,\nor a VUS.\nIt is an uncertain result because there\nwas a mutation, variant, or change found,\nbut there is not enough data to determine\nif this should be placed in the positive or negative category.\nWe hope that this video has been valuable and informative.\nPlease watch the additional videos\nin this series for more detail about various aspects\nof genetic conditions and pregnancy.\nIf you feel it would help to discuss the conditions\nor tests in more detail beyond the scope of these videos,\nplease speak with your medical provider,\nor request a referral for genetic counseling.\n\nWarmest wishes on your pregnancy journey.\n[MUSIC PLAYING]"}
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{"@context":"https://schema.org","@type":"VideoObject","name":"Reproductive Genetic Testing: Carrier Screening","thumbnailUrl":"https://cf-images.us-east-1.prod.boltdns.net/v1/jit/817826402001/96f538ed-b1d2-4e30-a9bb-94f8ed01128f/main/1280x720/4m3s797ms/match/image.jpg","uploadDate":"2024-11-22T03:41:02.923Z","embedUrl":"https://players.brightcove.net/817826402001/79bcaa57-54d7-453c-9f1f-8ab3ef7b15de/index.html?videoId=6365028739112","description":"An overview of carrier screening for genetic conditions that is available before or during pregnancy, as well as the inheritance patterns that these conditions follow. ","duration":"PT8M8S","transcript":"[MUSIC PLAYING]\nSPEAKER: This video will discuss carrier screening, which\nis genetic testing performed on individuals to determine\nif they are carriers for certain conditions.\nMost people are carriers for multiple conditions,\nand being a carrier usually will not cause any health concerns\nfor that person.\nA pregnancy might be at increased risk\nbased upon the carrier screening results\nin certain circumstances, which some people may find\nvaluable to know ahead of time.\nThis testing is separate from other tests\none may do in pregnancy, such as those\nthat look for Down syndrome or other chromosome conditions.\nPlease keep in mind that approximately 97% of all births\nresult in a baby being born with no birth defects.\nWhile carrier screening can detect many conditions,\nnot all conditions can be screened for, and normal results\ncannot guarantee a healthy pregnancy outcome.\nBefore we discuss what it means to be a carrier,\nlet's review some basics about how genetics and our genes\nare passed on.\nOne note, we will be using the term genetic parent\nin this video, which refers to the person who\ncontributed the egg or sperm to that pregnancy.\nPeople typically have 46 chromosomes,\nwhich come in pairs, meaning 23 different chromosomes.\nNumbers 1 through 22 are generally\nthe same in all people.\nThe last pair are the sex chromosomes.\nWhen there are two X chromosomes,\nthat person is typically female.\nWhen there is an X and a Y chromosome,\nthat person is typically male.\nChromosomes are made of long strings of DNA\nwhich contain all of our genes.\nHumans have about 20,000 genes which provide the instructions\nthat tells our body how to grow, form, and function.\nIn most cases, an individual has two copies\nof each gene, one on each chromosome.\nUsually, both copies of that gene are functional,\nbut sometimes a person may be born with a change\nto a gene which makes that copy of the gene not work.\nThis can be inherited in different ways.\nThree types of inheritance that we will review\nare autosomal recessive inheritance,\nautosomal dominant inheritance, and X-linked inheritance.\nIn autosomal recessive inheritance,\na person with one nonworking copy of a gene\nis called a carrier.\nWhen both genetic parents are carriers for the same condition,\neach pregnancy from those parents would have a 1 in 4,\nor 25%, chance to inherit no working copies of the gene\nand therefore be affected with that condition.\nThat also means that there is a 3 and 4, or 75%, chance\nto not have an affected pregnancy each time.\nAutosomal recessive conditions can\noccur when neither family has any known\nhistory of the condition.\nIt is estimated that two random individuals who are not related\nhave between a 1% and 6% chance of being carriers\nfor changes in the same gene.\nIn autosomal dominant inheritance,\na person with one nonworking copy of a gene\nhas that condition.\nEach pregnancy from that individual would have 1 in 2,\nor 50%, chance of inheriting the condition.\nThese conditions often run in families.\nBut new gene changes can also happen just by chance,\nparticularly when the sperm is from an older person.\nIn X-linked inheritance, the genes we are referring to\nare located on the X chromosome.\nSomeone with two X chromosomes who\nhas one nonworking copy of the gene\nis called a carrier, while someone with one X and one Y\nchromosome who has one nonworking copy of the gene\nhas the condition.\nCarriers of X-linked conditions have a 1 in 4, or 25%, chance\nto have an affected pregnancy.\nThat also means that there is a 3 in 4, or 75%, chance\nto not have an affected pregnancy each time.\nX-linked conditions can occur when\nneither family has any known history of the condition.\nThe types of conditions included in carrier screening\ncan result in severe childhood onset disease.\nSome of these conditions are treatable,\nwhile others will cause untreatable severe illness\nor even a shortened lifespan.\nIt is possible to do carrier screening\nto target just one or a few specific conditions,\nand there is also an option to test for hundreds of conditions\nall at the same time through testing called expanded carrier\nscreening.\nExpanded carrier screening includes\nmany autosomal recessive conditions,\nsome X-linked conditions, and sometimes autosomal\ndominant conditions as well.\nCarrier screening is performed on a blood or saliva\nsample from one or both of the genetic parents.\nCarrier screening can be done before or during pregnancy.\nThe possible results from carrier screening\nare negative, positive, and positive at risk for symptoms.\nA negative result means you were not\nfound to be a carrier for the conditions that were looked at.\nIt is not possible with carrier screening\nto absolutely rule out being a carrier.\nHowever, with a negative result, the chance\nthat you are a carrier for that condition\nhas been significantly reduced.\nA positive result means that you were\nidentified to be a carrier for a condition.\nWhen results are positive, the report\nwill be specific about the condition or conditions.\nIf you were found to be a carrier,\nyour medical provider will discuss\nthe result and the next steps with you in more detail.\nThe final possible result is called positive at risk\nfor symptoms.\nCarrier screening may occasionally\nidentify that the person being tested\nis both a carrier for a specific condition\nand could potentially develop symptoms themselves.\nIf you receive this result, your medical provider\nwill discuss the results and next step with you\nin more detail.\nWhen doing carrier screening for multiple conditions,\nsomeone may receive positive results\nfor some conditions and then negative results\nfor the remaining conditions.\nIf you receive positive or positive\nat risk for symptoms results, we encourage\nyou to share this information with your family members\ndue to their increased chance to have the same result.\nWhen carrier screening has identified an increased\nreproductive risk, the available options\nwill depend on whether or not someone is already pregnant.\nDuring pregnancy, diagnostic testing\ncan be performed to determine whether the pregnancy is\naffected with the condition.\nIf the diagnostic testing reveals a diagnosis,\nyour medical provider will discuss the options\nfor that pregnancy, including continuing\nthe pregnancy, consideration of any possible treatments,\nadoption, and pregnancy termination.\nThere is no correct decision for what to do after diagnosis.\nIt is a personal choice for you and your family.\nBefore pregnancy, patients can consider whether or not\nto do IVF with PGT-M to help select an embryo to transfer\ninto the uterus.\nIVF is where an egg is fertilized by sperm in a lab\nand an embryo is formed.\nPGT-M is where an embryo is tested for a specific condition\nor conditions.\n\nWe hope that this video has been valuable and informative.\nPlease watch the additional videos\nin this series for more detail about various aspects\nof genetic conditions and pregnancy.\n\nIf you feel it would help to discuss the condition\nor test in more detail beyond the scope of these videos,\nplease speak with your medical provider\nor request a referral for genetic counseling.\nWarmest wishes on your pregnancy journey.\n[MUSIC PLAYING]"}
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{"@context":"https://schema.org","@type":"VideoObject","name":"Reproductive Genetic Testing: Genetic Counseling","thumbnailUrl":"https://cf-images.us-east-1.prod.boltdns.net/v1/static/817826402001/d00c16e2-f50c-4e85-ad28-2380e3bc2909/8f4a3bf8-8945-4eaa-af07-66df2921cd97/1280x720/match/image.jpg","uploadDate":"2025-01-03T19:44:57.661Z","embedUrl":"https://players.brightcove.net/817826402001/79bcaa57-54d7-453c-9f1f-8ab3ef7b15de/index.html?videoId=6366662384112","description":"An overview of reproductive genetic counseling, including what to expect from and how to prepare for an appointment. ","duration":"PT4M9S","transcript":"[MUSIC PLAYING]\n\nIn this video, we'll give an overview of genetic counseling\nand why someone might wish to pursue it.\nFor the scope of this video, we will\nbe discussing prenatal and preconception\ngenetic counseling, where the focus is\non reproductive information and pregnancy.\nHowever, there are numerous other types\nof genetic counseling appointments that\nmay be appropriate for you or someone you know,\nincluding oncology, pediatrics, neurology, and cardiology.\nGenetic counselors are medical providers\nwho have extensive training regarding genetic testing\nand genetic conditions.\nThey also understand the complicated emotions\nthat may come up when discussing genetic testing\nand possible genetic conditions.\nGenetic counseling is not psychological therapy\nand does not take the place of meeting with the therapist.\nWhile genetic counselors will be discussing genetics and biology,\nyou do not need to have any specialized background\nto follow along with these concepts.\nGenetic counselors discuss complicated concepts\nin ways that are easy for anyone to understand.\nIn the appointment, your genetic counselor\nwill give an overview of certain genetic conditions,\ndiscuss the reproductive chances for genetic conditions,\nreview the pros and cons of different testing options,\nwork with you to find the testing path that makes the most\nsense for your situation, order and interpret\ngenetic test results, and collect a medical family history\nand assess your reproductive chances for these conditions.\nThere are many reasons why someone\nmay wish to have a reproductive genetic counseling appointment.\nIt might be for no other reason than to have\na more in-depth conversation about the different available\ngenetic testing options.\nOther reasons include a desire to pursue\none or multiple genetic tests, wanting\nto discuss how medical conditions and family\nmembers may impact someone's reproductive risks,\nor because test results or an ultrasound\nrevealed an increased risk for a genetic condition.\nReproductive genetic counseling can\noccur before someone is pregnant or during pregnancy.\nYour genetic counselor will tailor your appointment\nfor what is appropriate for you, as some tests can only\nbe done during pregnancy, while others can be done at any time.\nMost patients will only have one genetic counseling appointment\nper pregnancy.\nBut some patients may see a genetic counselor\na second or third time if new test results become\navailable which warrant further discussion or follow up.\nGenetic counseling appointments are typically\nscheduled for one hour.\nTo prepare for your genetic counseling appointment,\nyou and your partner may wish to gather information\nabout medical conditions in family members or your egg\nor sperm donor's family.\nIf someone has been diagnosed with a genetic condition,\nobtain as much specific information\nas you can about the condition, including\nwhich relative or relatives have the medical condition,\nthe specific name of the medical condition, at what age\nthey were diagnosed, and if any genetic testing has been\nperformed in any relatives.\nIf genetic testing was performed,\nobtain copies of the genetic testing results,\nif possible, to ensure your genetic counselor\ncan give you accurate information about that condition\nand the risks for you or your pregnancy.\nWe hope that this video has been valuable and informative.\nPlease watch the additional videos\nin this series for more detail about various aspects\nof genetic conditions and pregnancy.\nIf you feel it would help to discuss the conditions\nor test in more detail beyond the scope of these videos,\nplease speak with your medical provider\nor request a referral for genetic counseling.\nWarmest wishes on your pregnancy journey."}
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