Advanced Prenatal Genetic Testing

Genetic testing has become an integral component of modern obstetric care, enabling earlier detection of fetal anomalies and chromosomal differences. AHN Women’s Institute offers comprehensive genetic screening and diagnostic evaluation for patients across the continuum of preconception, and prenatally, to support high-risk pregnancies and improve maternal-fetal outcomes.

Expanding diagnostic precision with whole exome sequencing

As genomic medicine evolves, AHN Women’s Institute continues to integrate the latest advances in prenatal genetic testing into clinical practice. Whole exome sequencing (WES) represents a significant advancement, particularly for pregnancies complicated by structural anomalies, recurrent loss, or inconclusive standard testing.

This next-generation genomic analysis of protein-coding regions can identify pathogenic variants not captured by traditional testing methods. The additional layer of diagnostic clarity enhances:

• Identification of rare genetic syndromes.
• More accurate recurrence risk counseling.
• Earlier coordination with neonatal subspecialists.
• Informed delivery planning and postnatal management.

“We’re seeing more pathways for early and accurate fetal diagnoses than ever before thanks to the expansion of genetic testing,” said Devon Ramaeker, MD, division director of Maternal-Fetal Medicine at AHN Women’s Institute. “And with WES, we’re able to bridge the gap between identifying disease-causing mutations and understanding rare genetic disorders.”

A comprehensive approach to genetic testing

AHN Women’s Institute offers a full spectrum of established non-invasive methods and diagnostic testing to guide clinical care and reproductive planning, including:

• Carrier screening, which assesses genetic conditions passed down through families, such as sickle cell disease and cystic fibrosis, to support preconception counseling and early pregnancy risk assessment.
• Cell-free DNA (cfDNA) screening, a non-invasive approach that screens for fetal aneuploidies, which improves early risk stratification and guides further diagnostic planning when indicated. This can be available as early as 9–10 weeks’’ gestation and can be used to determine fetal sex when requested.
• Chorionic villus sampling or amniocentesis diagnostic procedures, which evaluate all chromosomes and detect smaller genetic abnormalities that are not typically identified through screening alone. 

The value of preconception genetic counseling

While many discussions about genetic risk begin during pregnancy, Dr. Ramaeker emphasizes the importance of preconception counseling whenever possible.

“Many patients assume their baby won’t be affected by any genetic conditions because there’s no existing family history, but that isn’t always the case,” said Dr. Ramaeker. “Every pregnancy carries some risk, so it’s important for us as clinicians to plan ahead for any situation in order to administer the best possible care.”

Early referral can facilitate timely testing and multidisciplinary coordination. Referral for genetic consultation is particularly important for patients with:

• Prior pregnancies affected by genetic conditions or birth defects.
• Known family history of genetic conditions.
• Intellectual disabilities with suspected genetic etiology.
• High-risk ethnic backgrounds, including Ashkenazi Jewish descent.
• Abnormal prenatal ultrasound findings or a positive cfDNA screening.
• Multifetal gestation or conception via IVF.

How to refer

The multidisciplinary team of obstetricians, ultrasound technicians, genetic counselors, and maternal-fetal medicine experts at AHN Women’s Institute provides comprehensive care for patients experiencing potential and existing genetic concerns. 

To refer your patient, send a message to Dr. Ramaeker through Epic or contact her office directly at 412-578-3951.