The field of prenatal screening has rapidly evolved over the last few years, and will likely continue to change in the future. There are many different types of screening tests available during pregnancy. It is important to know that screening tests will only tell you about the chance of a medical condition. Screening tests will not give you a ‘yes’ or ‘no’ answer. To learn more about tests that can give you definitive, ‘yes’ or ‘no’ answers, see Prenatal Diagnostic Testing.

It is also important to know that prenatal screening tests are always optional. You never have to undergo any prenatal testing if you do not wish to. Anyone who is having prenatal testing should have access to all of the necessary information to make an informed decision about what is right for them and their family.

Below find links to more information about specific types of prenatal screening tests that are currently available:

• Ultrasound
• First Trimester Screening
• Second Trimester Screening
• Sequential Screening
• Cell-free DNA (cfDNA)/Non-Invasive Prenatal Testing (NIPT)
• Genetic Carrier Screening

Click here to learn more about scheduling a genetic counseling appointment for pregnancy-related questions.

Prenatal diagnostic tests are tests that are able, in most cases, to give you a definitive ‘yes’ or ‘no’ answer about whether a pregnancy is affected with a variety of chromosome and genetic conditions.

While these tests are able to provide a lot of definitive information, there is a risk for miscarriage. The level of risk depends on which test is being done and the level of experience of the doctor performing the procedure. For tests that can still provide some information, but carry no risk for miscarriage, see Prenatal Screening Tests.

It is also important to know that prenatal diagnostic tests are always optional. You never have to undergo any prenatal testing if you do not wish to. Anyone who is having prenatal testing should have access to all of the necessary information to make an informed decision about what is right for them and their family.

Below find links to more information about prenatal diagnostic tests that are currently available:

• Chorionic Villus Sampling (CVS)
• Amniocentesis
• Fluorescence in-situ Hybridization (FISH)
• Traditional Chromosome Analysis (Karyotype)
• Chromosomal Microarray

Click here to learn more about scheduling a genetic counseling appointment for pregnancy-related questions.

The amount of genetic and chromosome conditions that can be tested for in pregnancy is constantly evolving. Click below for more information on some of the more commonly screened for conditions in pregnancy:

• Down syndrome (trisomy 21)
• Edwards syndrome (trisomy 18)
• Patau syndrome (trisomy 13)
• Open Neural Tube Defects/Spina Bifida
• Sex Chromosome Variations
  • Turner syndrome (45,X)
  • Klinefelter syndrome (47,XXY)
  • Trisomy X syndrome (47,XXX)
  • Jacobs syndrome (47,XYY)
• Microdeletion syndromes
  • 1p36 Microdeletion syndrome
  • 4p Wolf-Hirschhorn syndrome
  • 5p Cri-du-chat syndrome
  • 8q Langer-Giedion syndrome
  • 11q Jacobsen syndrome
  • 15q Prader-Willi syndrome
  • 22q11 DiGeorge syndrome

People have very different reactions to receiving a prenatal diagnosis.  For some, it represents a chance to know that they will have a child with some special needs ahead of time, allowing them to prepare. For others, they may not feel they are able to care for a child with special needs, and would choose to look into adoption after the baby is born. Others may choose to terminate/abort a pregnancy.

This is a very personal and sometimes difficult decision, and is often unexpected. It is important to have access to all of the appropriate information, as well as have the option to discuss these options further with a healthcare provider.

Continuing Your Pregnancy

Receiving a prenatal diagnosis is often an unexpected thing to hear during a pregnancy.

GSF recognizes that the decision of what to do next is difficult for many people, and our goal is to make sure you have all of the information you need to make the right decision for you and your family.

If you have decided that you want to continue your pregnancy and raise your baby, know that you are fully supported by professionals in the genetics field in that decision.  As you learn more about your baby’s condition and get connected with other families, you will likely find that there is a vast network of support of people who have traveled down this same path and want to be there for you.

Some people may be in a situation where they don’t feel supported in their decision to continue the pregnancy (maybe a partner, extended family members, or a provider has a differing opinion). This can add complexity and strain to a situation that may already be emotionally difficult. It is important to remember that this is your decision, and it is important that you feel as comfortable as possible with that decision.

Finding people to support you on this journey will continue to be very important. Click below to find more resources for families with a child who has a chromosome or genetic condition:

• Support Organization for Trisomy 18, 13 and Related Disorders (SOFT)
• Chromosome Disorder Outreach
• Unique

Adoption

Receiving a prenatal diagnosis is often an unexpected thing to hear during a pregnancy. GSF recognizes that the decision of what to do next is difficult for many people, and our goal is to make sure you have all of the information you need to make the right decision for you and your family.

If you find out during the pregnancy that the baby has a medical condition, there are several options, including adoption. Raising a child with special needs can be challenging and rewarding (as can raising any child), but it is not the right decision for everyone. If you’ve found out that you have a pregnancy that will have special needs and feel like adoption is something you may consider, click below to get more information. 

• RainbowKids
• Adopt America Network
• Spence-Chapin
• Special Angels Adoption

Terminating/Aborting Your Pregnancy

Receiving a prenatal diagnosis is often an unexpected thing to hear during a pregnancy.

GSF recognizes that the decision of what to do next is difficult for many people, and our goal is to make sure you have all of the information you need to make the right decision for you and your family.

Before making a decision to pursue an abortion, we do encourage individuals and couples to make sure that they have all of the information they need to make an informed decision. This is obviously a decision that cannot be undone, and it is important that you are confident in that decision.

If you are at the point where you have made the heart-wrenching and very difficult decision to terminate, you are not alone. We understand that this is a hard decision that every family must make for themselves, and make these decisions for a variety of reasons, and we support you.

One thing that the GSF team has learned over the years is that there are many different religious, cultural, and personal factors that play into this decision. Often times this is a choice that is made in cases where the pregnancy was planned and wanted, which can make this decision even more agonizing.

Your providers should be able to walk you through all of the logistics of this process and support you.  Click below to find additional online resources and support groups. If we can assist you in any other way, please contact us.

• Ending a Wanted Pregnancy
• Hope After Abortion
• Exhale

Click here to learn more about scheduling a genetic counseling appointment for pregnancy-related questions.

Preimplantation genetic screening (PGS) is the process of obtaining a few cells from a developing embryo following in vitro fertilization (IVF) in an attempt to determine if there are any extra or missing chromosomes (called aneuploidy). Embryos that appear to not have aneuploidy are then either selected for transfer to the uterus for implantation or can be frozen for future use. PGS is an available option to all patients or couples undergoing IVF.  

Preimplantation genetic diagnosis (PGD) refers specifically to testing an embryo for a known genetic difference in the family, such as a single gene disorder (like cystic fibrosis) or a chromosome rearrangement (such as a chromosome translocation). Unlike PGS, PGD is not an option for all patients or couples who complete IVF, as not all couples have a specific concern where PGD would be helpful.

How It Works
PGS and PGD involve the use of assisted reproductive technologies (ART) and can be performed as part of the IVF process. In brief, the following steps get performed:

1. A woman takes medications initially to suppress and then stimulate the ovaries in attempt to make multiple eggs grow
2. Eggs are retrieved with a transvaginal needle as part of a procedure
3. Eggs are fertilized with the male’s sperm
4. Embryos develop in the laboratory over the course of roughly 5-6 days
5. On day 5-6 of embryo growth (also referred to as the blastocyst stage) a few cells are removed from the outer layer of the embryo and sent to a laboratory that will test for overall chromosome number (PGS) and/or the specific genetic difference in question (PGD).

Following removal of these cells for PGS/PGD, the embryos are immediately frozen using a process called vitrification. When the results of PGS and/or PGD are available, the embryo(s) desired for transfer can be thawed and placed into the uterus. If additional embryos remain, they can be frozen for future use.

Reasons To Pursue
Chromosome abnormalities, such as aneuploidy, are a common reason for embryo implantation failure and miscarriage. In addition, the chance for aneuploidy in an embryo increases as a woman’s age increases. A woman might choose to pursue PGS if she is anticipated to be over the age of 35 at the time of a future delivery, given her risk for aneuploidy is higher. Some couples would choose to undergo PGS to lower their chance to have a pregnancy with a chromosome condition. Other couples have had a history of multiple miscarriages, and use PGS in an attempt to maximize their chance for a successful pregnancy.

Patients might elect to do PGD if a parent has a diagnosis of a single gene disorder that could be directly passed on to their children. Parents who are healthy but are carriers of an autosomal recessive condition with a 25% chance of having an affected child might also choose to pursue PGD. Additionally, a parent that was found to be a carrier of a chromosome translocation may choose to complete PGD to reduce the odds of a chromosome imbalance in a pregnancy.

It is possible to pursue both PGS and PGD on an embryo, when indicated.

Limitations
PGS and PGD are unable to test for all types of genetic abnormalities in an embryo. While PGS and PGD are thought to be accurate, there have been both false-positive and false-negative results. For this reason, prenatal screening and diagnostic testing options are still offered in pregnancies that have had PGD and/or PGS.

Other Factors
Using IVF with PGS and/or PGD does not guarantee a healthy pregnancy. The IVF process alone can be time-intensive as well as emotionally and financially demanding. PGS and PGD are both extra steps in the IVF process and consequently, tend to increase the overall cost of IVF. It is also possible that insurance will not cover the cost of such testing.

• Read FAQs about scheduling a Prenatal Genetic Counseling appointment
• Read FAQs about scheduling a Infertility/Preconception Counseling appointment
• Read FAQs about scheduling a Pediatric/Adult Genetic Counseling appointment.