Special Interest Group (SIG)

Technologies in Reproductive Screening and Diagnosis

Co-Chairs: Francesca Romana Grati, PhD and Natalie J. Chandler, PhD

SIG Roster (member sign-in required to view)

Francesca Romana Grati

Natalie Chandler

In early 2022, the Prenatal Screening and Laboratory Techniques SIGs combined to form the Technologies in Reproductive Screening and Diagnosis SIG to better collaborate on pursuing their common interests. The new SIG fosters and encourages the provision of clinically useful and scientifically valid prenatal screening, and it is dedicated to the advancement of the art and science of all aspects of the various laboratory techniques in use in fetal diagnosis, including validation and implementation of new techniques. The SIG wants to facilitate and encourage communication and education between SIG members. The SIG also participates in education and training activities of the ISPD. As there is an overlap with the interests of other SIGs, e.g. concerning ethical and psychosocial issues and screening aspects, the SIG closely operates with other SIGs.

SIG Topics of Discussion/Interest

  • Noninvasive prenatal testing
  • NIPD for monogenic disorders
  • PGD
  • Cytogenetics
  • Molecular genetics
  • Arrays
  • Quality control
  • Guidelines
  • Serum and ultrasound markers for fetal and maternal conditions
  • cf-DNA based screening
  • Carrier screening for monogenic disorders
  • Quality control and quality assurance
  • Ethical, legal and social aspects
  • Clinical trials
  • New Methods
  • Policies
  • Community Education and Information
  • Health Professional Training
  • Epidemiology

Global Updates Articles

Technologies in Reproductive Screening and Diagnosis SIG Update (2022.3)

Focus on Recent Research (2021.4)

Message From Outgoing Chairs (2020.5)

Update on current activities of the Laboratory Techniques SIG (2019.3)

Reproductive Screening SIG Updates (2019.5)

The Art of Genetic Counseling in the Era of Genomic Testing (2019.4)

Laboratory Techniques SIG News (2019.3)

Laboratory challenges with cell-based NIPT (2018.3)

Chromosomal mosaicism detected on trophectoderm biopsy during preimplantation genetic testing for aneuploidy (PGT-A): "The elephant in the room" (2018.5)

Screening and Prevention of Preeclampsia (2017.6)

The Dutch TRIDENT studies: Implementing NIPT as part of the national prenatal screening program (2017.4)

Prediction of Gestational Diabetes (2017.1)

Quality in NIPT (2016.2)


Recommended Reading/Viewing

ISPD Position Statements (Professional Communications Page)

Genetic causes of fetal limb anomalies (VES Webinar, 3 May 2023)

Stillbirth (VES Webinar, 8 March 2023)

Fetal Heart Disease - Talk 2: Genetic anomalies in fetal heart disease (VES Webinar, 18 Jan 2023)

Surprising Findings on NIPT (VES Webinar, 14 Dec 2022)

Fetal Growth Restriction - Talk 2:  Genetic testing in fetal growth restriction (VES Webinar, 30 Nov 2022)

Facial Clefts - Talk 2: Genetic testing in cleft lip and palate (VES Webinar, 18 Oct 2022)

CNS Anomalies / Agenesis of the Corpus Callosum (VES Webinar, 15 Dec 2021)

Genetic work-up of the increased nuchal translucency (VES Webinar, 17 Nov 2021)

Multiple Pregnancy (VES Webinar, 13 Oct 2021)

Abdominal Wall Defects (VES Webinar, 5 May 2021)

Spina Bifida (VES Webinar, 7 Apr 2021)

ISPD Position Statement on (cf)DNA screening for Down syndrome in multiple pregnancies (VES Webinar, 2 Dec 2020)

Debate 2: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered (VES Webinar, 28 Oct 2020)
Audio is unclear in some portions.

Hottest Topics: CRISPR (VES Webinar, 7 Oct 2020)

Interview of Diana Bianchi conducted by Lorraine Dugoff and Liona Poon, September 2019

Interview of Dennis Lo conducted by Liona Poon, March 2019

Interview of Kypros Nicolaides conducted by Lorraine Dugoff and Liona Poon, July 2018