2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-The eXtraordinarY Babies Study: Prevalence of Congenital Anomalies and Medical Conditions Among Neonates and Infants with Sex Chromosome Trisomies (SCT).

The eXtraordinarY Babies Study: Prevalence of Congenital Anomalies and Medical Conditions Among Neonates and Infants with Sex Chromosome Trisomies (SCT).

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The document discusses the findings of the eXtraordinarY Babies Study, which aims to identify predictors of health and neurodevelopment outcomes in infants with sex chromosome trisomies (SCTs), including XXY/Klinefelter, XYY, and Trisomy X syndrome. The study enrolled infants prenatally identified with these SCTs and analyzed their birth defects and medical problems in the first year of life.<br /><br />The results show that nearly 50% of the participants reported breastfeeding difficulties and eczema, while approximately 20-50% reported constipation, reflux, allergies, and cardiac or renal malformations. The study highlights the importance of accurate genetic counseling for SCT diagnoses and the need for medical screenings and anticipatory guidance regarding potential difficulties with breastfeeding, neonatal jaundice, hypoglycemia, and other medical problems.<br /><br />The limitations of the study include uneven sample sizes between SCT subtypes and potential ascertainment bias due to the specialty clinic being the lead study site. Future directions for research include prospective follow-up of the cohort to determine predictors and correlations with later outcomes, deeper phenotyping to identify genetic, epigenetic, and metabolic factors, as well as the development and implementation of clinical practice guidelines for SCTs.<br /><br />In conclusion, the eXtraordinarY Babies Study provides valuable insights into the congenital anomalies and medical problems experienced by infants with SCTs in their first year of life. This information can help guide counseling and medical care for these individuals and improve their outcomes.

Asset Subtitle

Presenting Author - Susan Howell, MS, CGC, MBA; Co-Author - Shanlee Davis, MD, PhD; Co-Author - Jillian Kirk, BS; Co-Author - Mariah Brown, BA; Co-Author - Karen Kowal, RN; Co-Author - Judith Ross, MD; Co-Author - Nicole Tartaglia, MD, MS;

Meta Tag

Cell free DNA/cfDNA

Chromosomal Abnormalities

Congenital Anomaly

Counseling

Natural History

Noninvasive prenatal screening (NIPS)

Phenotype

Prenatal Diagnosis

Co-Author Shanlee Davis, MD, PhD

Co-Author Jillian Kirk, BS

Co-Author Mariah Brown, BA

Co-Author Karen Kowal, RN

Co-Author Judith Ross, MD

Co-Author Nicole Tartaglia, MD, MS

Presenting Author Susan Howell, MS, CGC, MBA

Keywords

eXtraordinarY Babies Study

sex chromosome trisomies

breastfeeding difficulties

eczema

constipation

reflux

cardiac malformations

renal malformations

genetic counseling

medical screenings