Finding out you’re pregnant triggers a rush of emotions and thoughts, both of what will happen at full term but also what should be done before then. During a prenatal checkup, our maternal fetal medicine specialists will let you know what prenatal tests and screenings are available to help you make decisions about your pregnancy care and life after birth.
A popular prenatal screening people commonly have is for a condition called aneuploidy, which identifies if the growing fetus has the correct number of chromosomes or not. With an abnormal number, a range of genetic disorders are possible, which can affect the care the mother receives before birth as well as the life of the child to come.
Aneuploidy occurs when a human has anything other than the expected 23 pairs of chromosomes. With 23 from the mother and 23 from the father, each person should expect a growing baby to have 46 chromosomes total. If there’s either more or less than that, it’s known as aneuploidy.
Nearly any single chromosome can be affected by aneuploidy, leading to a wide range of conditions that affect people in different ways. Perhaps the most commonly discussed aneuploidy disorder is trisomy 21, or Down syndrome. This occurs when a baby has three copies of chromosome 21 instead of two. Aneuploidy screening is sometimes called “Down syndrome screening” as it will detect this disorder as well as many other genetic conditions.
Having information about your baby’s genetic makeup is beneficial for a number of reasons. First, certain genetic conditions will alter the course of your child’s life, requiring specialized care and a nuanced parenting approach. It could also change how the baby is delivered, what experts or specialists will need to be there, and where the parents should live to provide their child with the care and attention they’ll need.
Although in the majority of cases aneuploidy screening results in “normal” or “low risk” results, there’s always the possibility of parents discovering a severe condition that derails their plans not only for pregnancy care, but also their expectations of being parents. This is why some opt not to screen for aneuploidy disorders, because as long as the baby is delivered successfully, they will always love and care for their child as they were born.
Knowing that your baby has a genetic disorder allows parents to consult with family, friends, spiritual advisors, and childcare specialists to prepare for the birth of their new family member. They have that much more time to educate themselves on how best to care for their child or, in some cases, make the difficult decision to end the pregnancy.
It’s worth mentioning that there’s no such thing as a “perfect” baby, no way to guarantee that your child will be 100% free of any conditions or disorders, including aneuploidy. However, that doesn’t mean you should ignore these screenings, as they can help parents and family members mentally and emotionally prepare before the baby arrives.
There are several tests our maternal fetal medicine specialists perform when identifying aneuploidy. First and foremost, any abnormalities that arise during an initial ultrasound imaging appointment are followed up on in varying ways. Ultrasound identifies the health of the heart, brain, and spine, as well as the stage of development and number of fetuses.
After ultrasound, we may request further testing through amniocentesis or chorionic villus sampling. These diagnostic tests give technicians the ability to count the number of chromosomes and screen for certain genetic anomalies that could indicate a disorder like Down syndrome. After these tests, we may be able to render a diagnosis or perform more analyses to get a more accurate picture of your baby’s genetic code.
There are over 100 different disorders caused by aneuploidy, ranging from mild to severe. If you want to know about your baby’s risk for these genetic disorders and others like them, Maternal Fetal Medicine Associates are here to help. These genetic conditions can be life-changing for both the parents and those who will interact with the child throughout their life. Our geneticist can help you understand the implications of tests and screenings and walk you through a decision-making process that works best for you. Get in touch with us by calling our office or contacting us online today.