maternal care Archives - Amazing Health Advances

Breakthrough Prenatal Test Detects 250 Diseases at 9 Weeks

The AHA! Team — Wed, 12 Feb 2025 06:36:28 +0000

Abigail Klein Leichman via Israel21c – Israeli startup Identifai develops first maternal blood test to identify risk of 250 genetic diseases as early as 9th week of pregnancy, matching the results of riskier and later amniocentesis. Of the 140 million babies born worldwide each year, 6-8% are at risk for hereditary genetic diseases. Amniocentesis is considered the gold standard for detecting fetal genetic risks with high accuracy, but it is invasive, has some risks for mother and baby, and cannot be done until at least 15 weeks into the pregnancy. The only alternative until now has been non-invasive prenatal testing (NIPT), but it can assess risk for only about 10 percent of known genetic disorders, including Tay-Sachs, cystic fibrosis and spinal muscular atrophy. A breakthrough blood test developed in Israel is poised to make prenatal genetic testing available earlier, noninvasively and comprehensively: It can detect the risk of 250 diseases with high accuracy. Identifai was founded in 2021 based on the research of Tel Aviv University Prof. Noam Shomron, a world expert in genetics and bioinformatics. Using artificial intelligence and machine learning, Identifai’s technology requires nothing more than a maternal blood sample. After isolating fetal DNA from maternal DNA, it does a full, rapid fetal genetic sequencing starting from just nine weeks’ gestation. The technology can detect mutations even in a single DNA base among billions, making it capable of identifying a wide range of hereditary genetic conditions. “This is a tremendous step forward,” Identifai CEO Eyal Miller tells ISRAEL21c. “If the mother is a carrier [of a genetic disease], we can do the whole genome sequencing for the fetus and provide a clinical report with a negative predictive value of more than 99%,” he explains. “This means that if results are negative, the likelihood of the fetus having [a genetic disease] is close to zero. And that gives immediate relief to the parents. On the other hand, if the results are positive, the parents know exactly what they’re dealing with,” Miller adds. “That dramatically changes the whole ecosystem from the point of view of parents, clinicians and genetic counselors. This is why we shine.” Gamechanger The Israeli technology, expected to be commercialized in the second half of 2025 following additional clinical trials in Israel and the United States, has already gained international recognition through the publication of a study conducted at Israel’s Beilinson and Meir hospitals. Chosen as the cover story of the global journal Prenatal Diagnosis last August, the study involved 18 cases where both parents were carriers of genetic diseases. Identifai’s system analyzed the mothers’ blood samples and predicted fetal risks with 100% accuracy, matching the results from amniocentesis. Identifai will soon release results from a larger study at Columbia University Medical Center in New York. “At Columbia, we came across parents who carry a rare genetic disease and they were amazed that we can provide a very simple solution very early in the process in order to give them certainty about the status of the fetus as soon as possible,” Miller says. The couple wrote to Identifai: “Our reproductive journey has been hugely impacted by the knowledge of being carriers and we hope that this kind of non-invasive testing becomes available one day in the future for families like us.” The benefits of knowing Identifai generates a report for parents and their healthcare provider, detailing the probability of the fetus carrying or developing specific genetic conditions and how they might manifest if the pregnancy continues. “Couples are aware very early if the fetus has some type of disease, which means they can make a decision about what lies ahead,” says Miller. “If you’ve decided to maintain the pregnancy, there are specific hospitals in the United States that can treat the newborn immediately once a clear diagnosis is in place.” Furthermore, Identifai needs only maternal blood for analysis, which is helpful in the many cases where the father is unavailable or unknown. “If the mother is a carrier and you can’t find the father, the only thing to do until now has been to keep your fingers crossed and pray and then do invasive amnio,” says Miller. In addition to the medical advantages of the test, Miller adds, there’s an emotional and psychological advantage because amniocentesis “causes enormous anxiety and stress” and many expectant couples don’t want it. A $6 billion market Miller says the prenatal testing market is currently valued at $6 billion annually, with NIPT tests making up half of that amount. This market is expected to grow to $19 billion by 2030. “Our ability to detect fetal risk for hundreds of genetic conditions will expand this market to hundreds of billions, including early in-utero surgeries and detection of late-stage conditions where amniocentesis is no longer an option,” he says. “Furthermore, this solution, which does not require FDA approval, will be accessible, convenient, and effective for populations worldwide who avoid amniocentesis for cultural reasons, for millions of pregnancies where the father’s identity is unknown, and in response to new US legislation limiting abortions and amniocentesis tests that might justify terminations.” Identifai has received grants from the Israel Innovation Authority and raised $6.5 million from investors including Shizim as well as eHealth Ventures, which supports early-stage digital health companies from the initial stages of R&D through capital raising, business development, commercialization, and market entry. Identifai employs 15 people in its Tel Aviv offices. Miller says a US office will be established to support clinical, marketing and operational activities in that target market. For more information, click here. To read the original article click here.

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Maternal Voice Reduces Pain in Premature Babies

AHA Publisher — Mon, 30 Aug 2021 07:00:07 +0000

Université de Genève (University of Geneva) via Newswise – A baby born prematurely often has to be separated from its parents and placed in an incubator in intensive care. For several weeks, he or she will undergo routine medical procedures that can be painful, without being relieved by too many pharmaceutical painkillers, which are risky for his or her development. So how can we act for the good of the baby? A team from the University of Geneva (UNIGE), in collaboration with the Parini Hospital in Italy and the University of Valle d’Aosta, observed that when the mother spoke to her baby at the time of the medical intervention, the signs of the baby’s expression of pain decreased and his oxytocin level – the hormone involved in attachment and also linked to stress – increased significantly, which could attest to better pain management. These results, to be read in the journal Scientific Reports, demonstrate the importance of parental presence with premature babies, who are subjected to intense stress from birth, a presence that has a real impact on their well-being and development. As soon as they are born before 37 weeks of gestation, premature babies are separated from their parents and placed in an incubator, often in intensive care. They have to undergo daily medical interventions, necessary to keep them alive (intubation, blood sampling, feeding tube, etc.), which have potential impacts on their development and pain management. The difficulty? It is not always possible to relieve them with pharmaceutical painkillers, as the short and long term side effects on their neurological development can be significant. There are other ways to relieve the baby, such as wrapping, restraint, sugar solutions or non-nutritive sucking with a teat. However, for several years now, studies have shown that the presence of a mother or father has a real calming effect on the child, particularly through the emotional modulations of the voice. This is why the team of Didier Grandjean, full professor at the Psychology Section of the Faculty of Psychology and Educational Sciences (FPSE) and at the Swiss Center for Affective Sciences (CISA) of the UNIGE, has been interested in the early vocal contact between the mother and the premature baby, in the impact of the mother’s voice on the management of pain resulting from the routine practices necessary for the follow-up of the babies, and in the psychological and cerebral mechanisms that would be involved. Including the Mother in the Heel Prick To test this hypothesis, the scientists followed 20 premature babies at the Parini Hospital in Italy and asked the mother to be present during the daily blood test, which is done by extracting a few drops of blood from the heel. “We focused this study on the maternal voice, because in the first days of life it is more difficult for the father to be present, due to working conditions that do not always allow days off”, says Dr. Manuela Filippa, a researcher in Didier Grandjean’s group and first author of the study. The study was conducted in three phases over three days, allowing for comparison: a first injection was taken without the mother being present, a second with the mother talking to the baby and a third with the mother singing to the baby. The order of these conditions changed randomly. “For the study, the mother started talking or singing five minutes before the injection, during the injection and after the procedure”, says the Geneva researcher. We also measured the intensity of the voice, so that it would cover surrounding noise, as intensive care is often noisy due to ventilations and other medical devices. Signs of Pain Expression Significantly Reduced First, the research team observed whether the baby’s pain decreased in the presence of the mother. To do this, they used the Preterm Infant Pain Profile (PIPP), which establishes a coding grid between 0 and 21 for facial expressions and physiological parameters (heartbeat, oxygenation) attesting to the baby’s painful feelings. “In order to code the behavior of premature babies, we filmed each blood test and judged the videos ‘blind’, by trained personnel, without sound, so as not to know whether the mother was present or not”, notes Didier Grandjean. The results are significant: the PIPP is 4.5 when the mother is absent and drops to 3 when the mother talks to her baby. “When the mother sings, the PIPP is 3.8. This difference with the spoken voice can be explained by the fact that the mother adapts her vocal intonations less to what she perceives in her baby when she sings, because she is in a way constrained by the the melodic structure, which is not the case when she speaks”, emphasizes the Geneva professor. Maternal Voice Induces an Increase in Oxytocin The scientists then looked at what changes in the baby when it hears its mother speak. “We quickly turned to oxytocin, the so-called attachment hormone, which previous studies have already linked to stress, separation from attachment figures and pain”, explains Dr. Manuela Filippa. Using a painless saliva sample before the mother spoke or sang and after the heel prick, the research team found that oxytocin levels rose from 0.8 picograms per milliliter to 1.4 when the mother spoke. “In terms of oxytocin, this is a significant increase”, she says. These results show the positive impact of the mother’s presence when premature babies undergo painful medical procedures. “We demonstrate here the importance of bringing parents and child together, especially in the delicate context of intensive care”, Manuela Filippa emphasizes. “Furthermore, parents play a protective role here and can act and feel involved in helping their child to be as well as possible, which strengthens the essential attachment bonds that are taken for granted in a full-term birth”, concludes Didier Grandjean. To read the original article click here.

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