Evidence map›Paper›PMID 41631065›Full record

ReviewCureus2026

Importance of Preconception Reproductive Genetic Screening in Routine Clinical Care.

Nidhi Basavaraj, Nooruliza Pallathur, Amna G Elbadri Taha, Renu Sharma, Bashir Imam, Aaliya Rahman, Rahma Muse, Sanyam Sharma, Pallavi Shekhawat, Manju Rai

Abstract readReview
In one paragraph

Review in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Nidhi BasavarajInternal Medicine, JSS Medical College, Mysore, IND.
Nooruliza PallathurObstetrics and Gynaecology, University of Warwick, Coventry, GBR.
Amna G Elbadri TahaObstetrics and Gynaecology, Al Neelain University, Khartoum, SDN.
Renu SharmaInternal Medicine, Nepalgunj Medical College, Kathmandu, NPL.
Bashir ImamPediatrics, University of Pittsburgh Medical Center Cole, Coudersport, USA.
Aaliya RahmanInternal Medicine, Dr. D. Y. Patil Medical College Hospital and Research Center, Pimpri-Chinchwad, IND.
Rahma MuseInternal Medicine, East Africa University, Bosaso, SOM.
Sanyam SharmaInternal Medicine, Government Medical College, Amritsar, IND.
Pallavi ShekhawatObstetrics and Gynecology, Employees' State Insurance Corporation Model Hospital and Post Graduate Institute of Medical Sciences & Research, Basaidarapur, IND.
Manju RaiBiotechnology, Shri Venkateshwara University, Gajraula, IND.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Preconception reproductive genetic screening (PRGS) is an increasingly important strategy in preventive reproductive healthcare, enabling the identification of carrier status for autosomal recessive and X-linked disorders in asymptomatic individuals prior to conception. Advances in genomic technologies and expanding professional guidelines have shifted screening paradigms from ethnicity-based approaches toward population-neutral expanded carrier screening, underscoring the need for updated clinical and policy perspectives. The objective of this narrative review is to synthesize contemporary evidence on the clinical utility, technological evolution, ethical considerations, and implementation challenges of PRGS in routine care. A comprehensive literature search was conducted across PubMed, Scopus, Cochrane Library, and Web of Science, covering publications from January 2000 to September 2025. Following removal of duplicates and screening of titles, abstracts, and full texts, 80 studies were included in the final narrative synthesis. The reviewed evidence demonstrated that expanded carrier screening using next-generation sequencing improved detection of at-risk couples compared with traditional targeted approaches and supported informed reproductive decision-making. Integration of PRGS with genetic counseling, assisted reproductive technologies, and emerging digital tools such as artificial intelligence-assisted variant interpretation may further enhance scalability and precision. However, significant barriers persist, including variable insurance coverage, limited access to genetic counseling, underrepresentation of diverse populations in genomic databases, and unresolved ethical and psychosocial concerns. Overall, PRGS represents a clinically valuable and ethically complex preventive strategy with significant public health implications. When responsibly implemented with appropriate counseling, equitable access, and robust policy support, PRGS has the potential to reduce the burden of inherited genetic disorders and advance personalized, patient-centered reproductive care.

Indexed as

ethical considerationsexpanded carrier screeninggenetic counselinghealth disparitiesnext-generation sequencingpersonalized medicinepolygenic risk scorespreconception genetic screeningreproductive decision-makingreproductive genomics

Identifiers

PMID41631065
PMCPMC12860583

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.