Spectrum of fetal limb anomalies.

Seema Thakur, Vandana Chaddha,Rachna Gupta,Chanchal Singh,Savita Dagar,Aditi Shastri,Beena Tiwari, Kavitha,Vineet Sethia, Manish Malik,Puneet Jain, Akriti Kapoor,Aakaar Kapoor,Tushar Kapoor,Apurva Kapoor,Ravi Kapoor,Manisha Kumar, Rajesh Uppal

Journal of clinical ultrasound : JCU（2023）

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Abstract

Autopsy is the most important investigation in fetuses with limb anomalies. We suggest chromosomal microarray (CMA) as a first-tier test after autopsy. However, in cases of bilaterally symmetrical limb anomalies, in case of previous similarly affected child, or history of consanguinity, whole exome sequencing (WES) can be offered as the primary investigation, followed by CMA if WES is normal.

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Key words

Robert syndrome,VACTERL,amniotic band defects,autopsy,limb anomaly,microarray,radial ray defect

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