Home > Journals > Indian Journal of Genetics and Molecular Research

Indian Journal of Genetics and Molecular Research

Submit your article Read this Journals View all journals
Full Text (PDF)
Original Article

Incidence and Type of Abnormal Karyotype in Foetuses with Major Congenital Malformations Detected on Prenatal Ultrasound

Koorapati Suneetha , Audimulapu Sujatha 1 , Koorapati Suneetha 2

Author Information

Licence:



Indian Journal of Genetics and Molecular Research 7(2):p 41-54, July-December 2018. | DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.7218.1

How Cite This Article:

Timeline

Received : N/A         Accepted : N/A          Published : N/A

Abstract

Introduction: Structural fetal abnormalities occur in approximately 2-3% of all pregnancies, prenatal diagnosis, karyotyping is considered the gold standard because of its greater diagnostic accuracy to identify structural abnormalities and diagnose the most frequent aneuploidies. However loss or gain of genetic material is better studied by other techniques like array comparative genomic hybridization. Aims: To find the incidence and type of abnormal karyotype in foetuses with major congenital malformations detected on prenatal ultrasound. Materials and methods: All the pregnant patients with major congenital anomaly on prenatal test between January 2018 to October 2018 and total 47 patients are included in study. Routine ante natal investigations were done. Results: Abnormal karyotype was found in 28.5% (12/42) of samples. Numerical Abnormalities were seen in 6 patients (Trisomy 21 n=5 Monosmy 1). In our series the commonest anomaly was Trisomy 21 (5/12, 41% of patients). 92.9% with structural neural abnormalities had a normal karyotype. Eleven patients had structural cardiac abnormalities of which 6 (54.5%) had an abnormal karyotype. Fifty percent of patients with renal agenesis and 40% of patients with skeletal abnormalities had abnormal karyotype. Conclusion: Screening test should be done all pregnant patients irrespective of age and risk factors to identify the abnormal karyotype early in pregnancy which is found in significant proportion of foetuses with anomalous finding on prenatal ultrasound.

 

References

No records found.


About this article

Cite this article

Licence:



Received Accepted Published
N/A N/A N/A
DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.7218.1

Keywords

Structural fetal abnormalities; karyotypinganeuploidies; prenatal ultrasound

Article Level Metrics

Last Updated

Monday 22 June 2026, 00:02:07 (IST)

941

Accesses

1
274
00

Citations


NA
NA
NA

Download citation


Article Keywords

Keyword Highlighting

Highlight selected keywords in the article text.


Timeline

Received N/A
Accepted N/A
Published N/A

licence




Access this article

Reprint Order Form
Buy this Article
Institutional Subscriptions

Share