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Advanced maternal age (AMA) has been for years defined as pregnancy at 35 years or more (Can Genetic Testing Prevent Birth Defects?). With many couples today choosing to start families later in life, it’s crucial to understand how maternal age can impact the risk of birth defects. This article outlines the link between advanced maternal age and birth defects—particularly chromosomal abnormalities like Down syndrome—and the importance of genetic screening. It also highlights how modern technologies like preimplantation genetic testing (PGT), especially whole genome testing, help assess and mitigate these risks, along with Orchid’s genomic insights as a powerful tool for reproductive planning.

What is Advanced Maternal Age?

Advanced maternal age refers to expectant mothers aged 35 or above (Can Genetic Testing Prevent Birth Defects?). This threshold was chosen because the risk of pregnancy complications—especially chromosomal abnormalities—rises significantly beyond this age.

Birth Defect Risks at Advanced Maternal Age

One well-documented consequence of advanced maternal age is a higher risk of chromosomal birth defects. Down syndrome is a prime example — it is caused by an extra copy of chromosome 21, and its incidence rises with maternal age (How Age Affects Fertility). Older eggs have a longer “pause” in the cell division which produces the egg. This makes errors in division and chromosome separation more likely over time (How Age Affects Fertility). As a result, chromosomal conditions like Down syndrome occur more frequently in pregnancies of women over 35 (What is the Role of Genetics in the Development of Birth Defects?).

Genetic Screening and Preimplantation Testing

Given these elevated risks, doctors often recommend genetic screening for older expectant mothers. Noninvasive prenatal screening (NIPS) can estimate the likelihood of chromosomal abnormalities like Down syndrome (Can Genetic Testing Prevent Birth Defects?). If the screening suggests a high risk, a diagnostic test such as chorionic villus sampling (CVS) or amniocentesis can provide a definitive diagnosis during pregnancy (Can Genetic Testing Prevent Birth Defects?).

Although prenatal screening requires pregnancy initiation and about 10 weeks of development, preimplantation genetic testing (PGT) during an IVF cycle can screen embryos for genetic issues before pregnancy begins. For example, PGT-A (aneuploidy testing) counts the chromosomes in an embryo to ensure the correct number, helping identify embryos with any chromosomal abnormalities prior to transfer (How Age Affects Fertility). By selecting a chromosomally normal embryo, parents can greatly reduce the risk of miscarriage or genetic conditions in the pregnancy.

Orchid’s Whole Genome Embryo Testing

Orchid’s whole-genome embryo testing provides an even more comprehensive view of an embryo’s DNA. Traditional PGT methods analyze only a small fraction of the embryo’s genome, whereas Orchid’s Whole Genome Embryo Report sequences over 99% of the embryo’s DNA (Orchid | Whole Genome Embryo Report). With this breadth of data, Orchid’s test can screen embryos for hundreds of genetic conditions – including many linked to birth defects – before pregnancy (Can Genetic Testing Prevent Birth Defects?). These genomic insights give prospective parents (especially those of advanced maternal age) unprecedented information to guide embryo selection. By identifying potential risks in each embryo upfront, Orchid enables truly proactive family planning aimed at having a healthy baby.

Conclusion

In summary, while advanced maternal age comes with higher odds of birth defects, modern genetic screening and testing have greatly improved the outlook. By leveraging screening tools and whole-genome testing, couples can reduce uncertainty and increase their chances of a healthy baby. Orchid’s cutting-edge embryo analysis exemplifies how genomic insights empower advanced-age parents to make informed, confident decisions (Pre-Implantation Genetic Testing for Birth Defects). Armed with accurate data and medical guidance, all women, including those 35 and above,  can approach pregnancy with greater confidence in their future child’s health.