Updated by the Progyny Clinical Team \u2014 August 2025.<\/p>\n\n\n\n
Every cell in your body contains about 3 billion base pairs of DNA, organized into 46 chromosomes (23 pairs). These chromosomes carry the genetic material that makes you unique.<\/p>\n\n\n\n
You inherit half of your genetic material from the egg and half from the sperm. Genes determine features such as eye and hair color, blood type, and height. Sometimes, changes in the DNA \u2014 called mutations or variants \u2014 can cause conditions that are passed from parents to children.<\/p>\n\n\n\n
If a mutation occurs in a key part of a gene and is inherited from one or both parents, it may cause a genetic condition. Examples include sickle cell disease, cystic fibrosis, and Tay-Sachs disease.<\/p>\n\n\n\n
Expanded carrier screening (ECS)<\/strong><\/p>\n\n\n\n Before trying to conceive, you may choose to have this blood test. This test looks at whether you and your reproductive partner carry certain genetic changes that could be passed to your children. ECS can identify hundreds of inheritable mutations, also called variants.<\/p>\n\n\n\n If one partner tests positive for a mutation, the other partner is usually tested to confirm they do not carry the same one. Most of the genetic changes being tested only matter if both partners carry the same or similar mutation.<\/p>\n\n\n\n When both partners test positive for a mutation in the same gene, a child could inherit the related genetic condition. To lower this risk, some people choose in vitro fertilization (IVF) to make embryos that can be genetically tested for the condition. This allows you and your partner to transfer embryos that are not affected.<\/p>\n\n\n\n Karyotype testing<\/strong><\/p>\n\n\n\n If you have had multiple pregnancy losses or if no sperm is found in a semen sample, your healthcare provider may recommend a karyotype test. This blood test looks at the number, structure, and arrangement of your chromosomes to find changes that may affect fertility or cause miscarriage.<\/p>\n\n\n\n During the test, cells are photographed under a microscope. It\u2019s done to see if any chromosomes are missing, extra, or altered in a way that could cause problems with conception or pregnancy.<\/p>\n\n\n\n If you are pregnant, genetic testing can help assess your baby\u2019s health and identify genetic conditions before birth. Common options include:<\/p>\n\n\n\n Noninvasive prenatal testing (NIPT)<\/strong><\/p>\n\n\n\n This is a blood test that screens for certain chromosomal conditions, such as Down syndrome. It can also determine the baby\u2019s sex.<\/p>\n\n\n\n You may also hear it called noninvasive prenatal screening or cell-free DNA.<\/p>\n\n\n\n NIPT is a screening test \u2014 it is highly accurate but not 100% definitive. If results raise concerns, or if an ultrasound shows something unexpected, your provider may recommend a diagnostic test.<\/p>\n\n\n\n Chorionic villus sampling (CVS)<\/strong><\/p>\n\n\n\n This test takes a small sample of cells from the placenta. It can be performed as early as 10 weeks of pregnancy.<\/p>\n\n\n\n Amniocentesis<\/strong><\/p>\n\n\n\n This test takes a small sample of amniotic fluid, which surrounds the baby in the uterus. It\u2019s usually performed starting at 15 weeks and can be done later in pregnancy if needed.<\/p>\n\n\n\n CVS and amniocentesis are diagnostic tests. Unlike screenings, they can confirm or rule out genetic conditions with a high degree of accuracy. The samples collected may be tested in different ways, such as:<\/p>\n\n\n\n Genetic testing results can be complex and sometimes emotionally challenging. Talk with your provider to understand what the results mean for you and your family planning.<\/p>\n\n\n\n If you have questions or concerns, Progyny is here for you. Please contact your Progyny Care Advocate for support.<\/p>\n\n\n\n Disclaimer<\/strong>: The information provided by Progyny is for educational purposes only and is not medical advice. Always consult a qualified healthcare provider for medical guidance.<\/p>\n","protected":false},"excerpt":{"rendered":" Updated by the Progyny Clinical Team \u2014 August 2025. Inheritable conditions Every cell in your body contains about 3 billion […]<\/p>\n","protected":false},"author":25,"featured_media":28935,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[230,241],"tags":[228],"class_list":["post-12075","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-education","category-fertility-testing","tag-article"],"yoast_head":"\nGenetic testing during pregnancy<\/h2>\n\n\n\n
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Emotional and medical support<\/h2>\n\n\n\n