J Korean Med Sci.  2006 Feb;21(1):165-168. 10.3346/jkms.2006.21.1.165.

Transabdominal Embryofetoscopy for the Detection of Short Rib-polydactyly Syndrome, Type II(Majewski), in the First Trimester

• Lee K
• Lee JW
• Chay DB
• Lee SH
• Cho SH
• Kim BW
• Hwang JY
• Park MS

• KMID: 2157802
• DOI: http://doi.org/10.3346/jkms.2006.21.1.165

Abstract

Our aim was to demonstrate the potential of first-trimester embryofetoscopy for prenatal diagnosis in a continuing pregnancy. A patient at risk for giving birth to an infant with short rib-polydactyly syndrome, type II (Majewski), presented for prenatal diagnosis at 9 weeks of gestation. A 1 mm semirigid fiberoptic endoscope with an 18 gauge examination sheath and a single-chip digital camera were used for transabdominal embryofetoscopy. Transabdominal embryofetoscopy was performed at 13 weeks of gestation. Direct visualization of the fetus was achieved and no gross limb or facial abnormalities were seen. This case shows that embryofetoscopy is a useful tool for early diagnosis in high-risk patients in the first trimester for continuing pregnancies.

Keyword

Fetoscopy; Prenatal Diagnosis, Pregnancy Trimester, First; Short Rib-Polydactyly Syndrome, Type II (Majewski)

MeSH Terms

Adult
Female
Fetal Diseases/*diagnosis
Fetoscopy/*methods
Humans
Infant, Newborn
Pregnancy
Pregnancy Outcome
Pregnancy Trimester, First
Short Rib-Polydactyly Syndrome/*diagnosis

Figure

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  Fig. 1 Transabdominal sonogram of the fetus in supine position with the breech presentation and a crown-rump length of 6.99 cm and the anterior placenta before embryofetoscopy.

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  Fig. 2 Embryofetoscopic view of the fetus at 13+5 weeks gestation demonstrating normal anatomical structures: (A) lips, (B) four fingers of left hand, (C) thumb of left hand, (D) external genitalia and (E) toes.

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