Author: mallyse

Findings: Women experienced the combined test as ‘a test’ that could identify potentially anomalous infants, and could result in being offered termination of the pregnancy; a fact that resulted in their extensive deliberations and hesitation about he test uptake. Only two women had the Combined Test. Conversely, women opted for the Fetal Anomaly Scan and saw it as ‘only an ultrasound to see the baby’. Above all, women emphasized that whether or not to participate in antenatal anomaly tests
was their own, individual decision as ultimately they were accountable for their choices. All women, including nulliparous women, viewed becoming pregnant as the point of becoming a mother – and considered prenatal screening through the lens of
motherhood.
Key conclusions: Motherhood was the lens through which the decision to participate in antenatal anomaly screening was approached. Religious beliefs influenced values on termination and disability and were influential in the deliberations for prenatal testing. Combined Test but not Fetal Anomaly Scan was considered to be a prenatal screening test.
Implications for practice: counsellors should have knowledge of the different Islamic beliefs about -the latest possible day for- termination and an awareness that Muslim women make their own conscious choices, also beyond Islamic rulings.

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Results

Post-test positive predictive values for trisomies 21, 18, and 13 based on pre-test risk are presented in Table 1. PPVs for trisomy 21 risks ranged from 99% for pre-test risks greater than or equal to 1/10 to 11% for pre-test risks less than or equal to 1/9750. Post-test PPVs for trisomy 18 ranged from 99% for pretest risks greater than or equal to 1/10 to 6.0% for pretest risks less than or equal to 1/9500. Post-test PPVs for trisomy 13 ranged from 98% for pretest risks greater than or equal to 1/10 to 4% for pre-test risks equal to 1/10,000. For all trisomies and all risk strata, the NPV was greater than or equal to 99%.

Conclusion

Post-NIPT PPV is highly dependent on the patient’s pre-test trisomy risk and should play a central role in accurate and informed pre- and post-test counseling. NIPT’s very low PPV in patients with low a priori trisomy risks must be considered in any discussion of expanding current guidelines to offer NIPT as a first line screen in this population.

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Good Start Genetics, a Cambridge, Mass.-based firm that markets a next-generation sequencing-based carrier screening test, has plans to develop a preimplantation genetic screening test based on NGS technology it licensed from Johns Hopkins University and plans to eventually move into the noninvasive prenatal testing market. The company’s goal is to transition from a one-test provider to a full-service genetic testing company in the broader reproductive health market and potentially other markets that capitalize on the company’s NGS expertise, CEO Don Hardison, told GenomeWeb. “We’re going through a strategic review now,” he said. “One of our clear [areas of] expertise is around next-gen sequencing,” and the firm is looking at “markets to apply interesting applications of next-gen sequencing, both inside and outside of reproductive health.” Read more.

Stacie Chapman’s heart skipped when she answered the phone at home and her doctor — rather than a nurse — was on the line. More worrisome was the doctor’s gentle tone as she asked, “Where are you?” On that spring day in 2013, Dr. Jayme Sloan had bad news for Chapman, who was nearly three months pregnant. Her unborn child had tested positive for Edwards syndrome, a genetic condition associated with severe birth defects. If her baby — a boy, the screening test had shown — was born alive, he probably would not live long. Sloan explained that the test — MaterniT21 PLUS — has a 99 percent detection rate. Though Sloan offered additional testing to confirm the result, a distraught Chapman said she wanted to terminate the pregnancy immediately. Read more.

Zachary Diamond and Angie Nunes look at their “wonderfully healthy” 6-month-old son Solomon, knowing they might have terminated the pregnancy — all because of a popular prenatal test that was wrong. The Portland, Oregon, couple was encouraged to use a new noninvasive blood test that their doctor said was “99 percent” accurate in predicting chromosomal abnormalities. The test revealed the fetus had Trisomy 18 or Edwards syndrome, a painful genetic condition that is nearly always fatal, and their doctor told them to prepare for the worst. Read more.

 

An unusual finding in an experiment by two Boston-area doctors is raising questions about a new generation of prenatal screening tests used by an increasing number of pregnant women to predict the risk a fetus has Down syndrome or other genetic conditions. A pair of obstetricians at Boston Maternal Fetal Medicine who specialize in high-risk pregnancies submitted blood samples from two women who were not pregnant to five commercial labs that perform these new screens, claiming the samples were from women who were 12 weeks pregnant. The study was funded by Ariosa Diagnostics Inc., one of the testing companies. Read more.

 

Swiss pharmaceutical giant Roche Holdings recently announced the acquisition of Ariosa Diagnostics, which makes non-invasive prenatal testing equipment. The terms of the deal were not disclosed by Roche in its press release. According to WHO, there are over 200 million pregnancies worldwide annually and prenatal testing to detect Down syndrome is gaining strong traction. This move not only allows Roche to establish a foothold in a new and growing market, but also emphasizes the company’s confidence in the overall diagnostics industry. Given that J&J’s medical devices and diagnostics business hasn’t grown much in recent years, Roche’s acquisitions and investments may indicate that it is doing something better than its competitor and perhaps knows which key markets to target. Read more.

 

Illumina, Inc. (NASDAQ: ILMN) and Sequenom, Inc. (NASDAQ: SQNM) today announced they have agreed to settle all pending infringement claims and other disputes between Sequenom and Verinata Health, Inc. The parties will pool their owned and in-licensed intellectual property directed to noninvasive prenatal testing (NIPT), including patents that will remain the subject of ongoing interference proceedings. Under the agreement, Illumina will have exclusive worldwide rights to utilize the pooled intellectual property to develop and sell in-vitro diagnostic kits for NIPT and to license third-party laboratories wishing to develop and sell their own laboratory-developed NIPT tests under the collection of pooled patents. In addition, Sequenom and Illumina will each have rights to utilize all pooled patents to develop and sell their own respective laboratory-developed NIPT tests. The parties will share the revenue from the patent pool and Illumina will pay Sequenom a royalty on sales of in-vitro diagnostic kits for NIPT. Read more.

Objective

The purpose of this study was to estimate the performance of a single-nucleotide polymorphism (SNP)–based noninvasive prenatal test for 5 microdeletion syndromes.

Study Design

Four hundred sixty-nine samples (358 plasma samples from pregnant women, 111 artificial plasma mixtures) were amplified with the use of a massively multiplexed polymerase chain reaction, sequenced, and analyzed with the use of the Next-generation Aneuploidy Test Using SNPs algorithm for the presence or absence of deletions of 22q11.2, 1p36, distal 5p, and the Prader-Willi/Angelman region.

Results

Detection rates were 97.8% for a 22q11.2 deletion (45/46) and 100% for Prader-Willi (15/15), Angelman (21/21), 1p36 deletion (1/1), and cri-du-chat syndromes (24/24). False-positive rates were 0.76% for 22q11.2 deletion syndrome (3/397) and 0.24% for cri-du-chat syndrome (1/419). No false positives occurred for Prader-Willi (0/428), Angelman (0/442), or 1p36 deletion syndromes (0/422).

Conclusion

SNP-based noninvasive prenatal microdeletion screening is highly accurate. Because clinically relevant microdeletions and duplications occur in >1% of pregnancies, regardless of maternal age, noninvasive screening for the general pregnant population should be considered.

Noninvasive prenatal screening, using cell-free fetal DNA circulating in maternal blood, offers an early method of detecting certain fetal chromosomal abnormalities. As a new technology, many uncertainties exist about the place of noninvasive prenatal screening in the management of pregnancy, and it will take time for guidelines and recommendations on the use of this type of screening to be formulated and disseminated. In the meantime, these tests have made so many headlines that clinicians must be ready with answers when women come in to the office asking for the test.

Medscape spoke with Susan Klugman, MD, Director of Reproductive Genetics at Montefiore Medical Center in New York City, about what clinicians need to know about nonvinasive prenatal screening.

Medscape: How does noninvasive genetic testing fit in with existing prenatal tests for chromosomal aneuploidies?

Dr. Klugman: The field of prenatal genetic testing is evolving exponentially. There are genetic tests and genetic screens, and the difference between them is very important for both the clinician and the patient to understand. Read more.