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Down’s Syndrome Screening in the First Trimester with Additional Serum Markers: Indian Parameters

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The Journal of Obstetrics and Gynecology of India Aims and scope Submit manuscript

Abstract

Objective

To derive a risk calculation algorithm suitable for use in India when screening for Down’s syndrome using four first-trimester maternal serum markers either alone or with ultrasound nuchal translucency (NT).

Methods

Stored maternal serum samples (− 20 °C) from 411 singleton unaffected pregnancies were retrieved and measured for pregnancy-associated plasma protein (PAPP-A), free β-human chorionic gonadotropin (hCG), placental growth factor and α-fetoprotein. Samples were taken at 10–13 weeks’ gestation. Equations were derived to express marker levels in multiples of the gestation-specific normal median, adjusted for maternal weight. Gaussian model parameters were derived and compared with six published non-Indian studies; NT parameters were derived from 27,647 women screened in India. On the basis of the maternal age distribution in 64,473 Indian women screened in 2016–2017, the model was used to predict test performance.

Results

The model predicted a detection rate for a serum-only protocol of 80% for a 5% false-positive rate. Using a 1 in 250 at term Down’s syndrome risk cut-off, the predicted detection rate was 78% and the false-positive rate was 4.1%. When NT was also included, the rates were 95% for 5% and 90% for 1.4%, respectively.

Conclusion

First-trimester screening using four serum markers only can be carried out in India. Performance is expected to be similar to the second-trimester Quad test and will also facilitate early screening for preeclampsia and open spina bifida. A protocol of NT plus the four serum markers enhances the performance compared with NT, PAPP-A and free β-hCG.

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Acknowledgements

We thank Deepika Sai Reddy and Lakshmi Kiran, Fetal Medicine Consultants at Rainbow Children Hospital & Birth Right by Rainbow, for providing samples and discussions on data; Ashok Khurana, at the Ultrasound Laboratory, New Delhi, for discussions on data; Soundarya Vazhuthanassery and Prabhu Selvaraj of Perkin Elmer Health Sciences, Chennai, for managing the project from planning to execution and data generation in the laboratory.

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Authors and Affiliations

  1. Mediscan Systems & Fetal Care Research Foundation, 197 Dr Natesan Road, Mylapore, Chennai, 600004, India

    Seshandri Suresh, Sujatha Jagadeesh & Sudarshan Suresh

  2. Department of Obstetrics and Gynecology, Columbia University Medical Center, 622 W 168th Street, New York, NY, 10032-3725, USA

    Howard S. Cuckle

  3. Fetal Care Center, 152 SP Mukherjee Road, Kolkata, 700026, India

    Kushagradhi Ghosh

  4. Rainbow Children Hospital & BirthRight by Rainbow, 22 Road Number 4, Banjara Hills, Hyderabad, 500034, India

    Gayathri Vemavarapu & Tulika Taval

Authors
  1. Seshandri Suresh
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  2. Howard S. Cuckle
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  3. Sujatha Jagadeesh
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  4. Kushagradhi Ghosh
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  5. Gayathri Vemavarapu
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  6. Tulika Taval
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  7. Sudarshan Suresh
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Corresponding author

Correspondence to Seshandri Suresh.

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Conflict of interest

Howard Cuckle is a paid consultant of PerkinElmer Inc. All other authors declare that they have no conflict of interest.

Ethical Approval

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation and with the Helsinki Declaration of 1975, as revised in 2008.

Informed consent

Informed consent was obtained from all patients for being included in the study.

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Seshandri Suresh is a Director of Mediscan Systems, Diagnostic Ultrasound Research and Training Centre, Chennai, India; Hony Secy, Voluntary Health Services Hospital, Taramani, Chennai, India and Visiting Prof. in Perinatology , Sri Ramachandra University, Porur, Chennai, India. Howard S. Cuckle is currently working for Department of Obstetrics and Gynecology, Columbia University Medical Center New York, NY USA. Sujatha Jagadeesh is Head of the Department of Genetics and Dysmorphology, Mediscan Systems and Fetal Care Research Foundation, Chennai, India. Kushagradhi Ghosh is Professor of Obstetrics and Gynecology, Vivekananda Institute of Medical Sciences (Kolkatta Health University), Kolkatta, India. Gayathri Vemavarapu is Senior Consultant in OBGYN, Rainbow Children Hospital and Birth Right by Rainbow, Hyderabad. Tulika Taval is Senior Consultant in OBGYN, Rainbow Children Hospital and Birth Right by Rainbow, Hyderabad. Sudarshan Suresh is Consultant in Fetal Medicine, Mediscan Systems, Diagnostic Ultrasound Research and Training Centre, Chennai, India.

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Suresh, S., Cuckle, H.S., Jagadeesh, S. et al. Down’s Syndrome Screening in the First Trimester with Additional Serum Markers: Indian Parameters. J Obstet Gynecol India 70, 12–17 (2020). https://doi.org/10.1007/s13224-018-1198-1

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  • DOI: https://doi.org/10.1007/s13224-018-1198-1

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