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I know OBGYN appointments can sometimes be overwhelming or too short on time to get all of your questions answered. The topic of prenatal testing for fetal chromosomal differences (abnormalities) is one that definitely deserves more discussion. Learn more!
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As a Maternal-Fetal Medicine specialist, a large part of my day is spent performing ultrasounds to detect fetal birth defects, screening for genetic conditions or predispositions through maternal blood testing and family history, and counseling patients on the findings of each.
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Nuchal Translucency Screening and Combined First and Second Trimester Screening antenatal screening. The ability to detect Down syndrome through antenatal screening has increased with the addition of first trimester screening, or screening at less than 14 weeks of pregnancy.
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An ultrasound is an excellent tool for evaluating fetal defects, conditions or syndromes. When considering Down syndrome, there is a 50% detection rate for this condition when using an ultrasound as a screening tool.
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There is an increased chance with each passing year that our eggs will make an error with separation of the chromosomes (the packets of material that contain our genes) during fertilization. If this occurs, a baby could end up with an extra or missing copy of a gene or chromosome.
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NIPT uses a blood sample taken from mom, so there is no risk to the pregnancy itself. It is available any time after the 10th week of pregnancy, unlike the first trimester screen or the quad screen, which have limited times during pregnancy when they can be performed.
Read MoreCheck out the products for TTC through parenthood in the Babies After 35 Amazon shop, online courses and other services that come "Dr. Clark-approved"!
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