the need to improve PRENATAL care
giving birth is one of the most exciting things women experience. It can also be one of the most difficult.
JULY 2023
by Adriana Costafreda
Meeting their baby for the first time is something parents never forget. While we all wish for the path to this life-transforming event to be smooth and predictable, unfortunately, many parents spend their waiting month anxious about unexpected and medically complex situations.
Fortunately, significant advancements have been made in the fight against child mortality worldwide over the past three decades, as demonstrated in the accompanying plot. Notably, Europe has witnessed a remarkable decline in child mortality, plummeting from 1.8% to 0.5% — down to its lowest point in history.
Looking more closely at the data, however, youth mortality is at its highest rate in Europe around the age from birth to four years. Children with birth defects have high mortality. Studies have suggested around 19.3% of neonatal and 20.6% of infant deaths are due to congenital anomalies in more developed countries. Mortality, particularly from congenital anomalies, is much greater during infancy than childhood, with over 65% of deaths in children under four years of age occurring in infants under one year of age.
Although there has been significant improvement in this space, we firmly believe we can do better and continue looking for opportunities to develop new technologies to help reduce mortality in the moments and a few years after delivery.
This is the time to focus on the need also because it is estimated that the prevalence of potentially fatal birth defects in the global population will continue to grow. Although birth defects are more prevalent in underdeveloped countries, there are factors with a huge impact on these conditions that affect developed countries. For instance, excessive consumption of alcohol and tobacco is one of the most significant factors of birth abnormalities. Moreover, the growing incidence of disorders with a genetic component, such as obesity and diabetes, is also a consideration and contribution to successful outcomes in pregnancy.
Data Bridge Market Research analyzes that the birth defects market is expected to undergo a CAGR of 4.70% during the forecast period. The expansion of the healthcare industry driven by both public and private players in developing economies will boost market growth opportunities in this specific sector as well as the increasing number of diagnostic centers and hospitals and rising technological advancements in infant and maternal care products.
This article aims to provide a detailed insight into the prenatal space, emphasizing the need for novel technologies that enhance prenatal screening and enable early detection of severe congenital conditions.
Our primary objective is to reassure expectant mothers and those planning for motherhood by showcasing the advancements in diagnosing and treating birth defects. Furthermore, we seek to identify areas that still require improvement to offer entrepreneurs new ideas for worthy new ventures that we hope to see start (and finance) in the future.
what are birth defects?
Firstly, birth defects are unexpected developmental issues that may be discovered in the initial moments when the mother is still pregnant or days after the baby is born. Also, in some cases, a baby’s congenital condition may result in unexplainable symptoms until it is diagnosed some years later, causing significant stress and uncertainty for the family.
The definition of birth defects is wide-ranging, encompassing both external abnormalities and more severe conditions that impact vital organs. Numerous factors contribute to a baby's birth defect risk, including environmental influences, family history, exposure to chemicals or substances, nutrition, genetic mutations, the mother’s medical conditions, and specific medications. These factors do not guarantee that a baby will have a birth defect, just as the absence of these factors does not guarantee that a baby will be free of birth defects.
Birth defects can be structural or developmental; both might sometimes be undetected before birth. Structural defects refer to issues in how the baby’s organs form and mature. On the other hand, developmental and functional defects refer to problems in body functions such as degenerative disorders, the nervous system or brain, metabolic diseases, and sensory difficulties. Functional defects are harder to detect prenatally since prenatal diagnosis mainly uses ultrasound. Ultrasound creates an image of the baby; thus, structural defects are more likely to be detected, although these defects are missed in 50% of pregnancies. Additionally, some functional defects related to genetic mutations can be detected using invasive methods such as amniocentesis.
Nowadays, all pregnant mothers go through prenatal diagnosis. The obstetric care of pregnancy includes mainly non-invasive screening approaches through ultrasound. However, in some cases, invasive procedures can be carried out, which help determine definitive prenatal diagnosis of fetal disorders. All these prenatal testing, screening, and diagnosis are essential tools that help obstetricians determine whether the fetus has a genetic disorder or congenital anomalies.
birth defects have a huge impact on the healthcare system
Birth defects pose a considerable cost to the healthcare system. It is estimated that lifetime costs are $6 billion for those infants born in a single year with one or more of 17 major birth defects. Therefore, when estimating the impact of birth defects, it is important to note that…
- Birth defects are common
Every 4 1/2 minutes, a baby is born with a birth defect in the United States. Birth defects affect 1 in every 33 babies (about 3% of all babies) born in the United States annually. That translates into about 120,000 babies.
- Birth defects are costly
Each year, total hospital costs for U.S. children and adults with birth defects exceed $23 billion, not including outpatient care or many provider charges.
- Birth defects can be fatal
Birth defects cause 1 in every five deaths during the first year of life, accounting for 20% of all infant deaths.
In summary, birth defects are critical conditions that can cause lifelong challenges.
Having this in mind, it is crucial to understand the importance of developing new technologies to fill the gap in this space. Nonetheless, in the past years, some companies have tried to solve this problem.
improving prenatal screening using ultrasound
Fetal ultrasound and, less commonly, genetic testing are diagnostic procedures to follow the baby's development throughout the pregnancy and help obstetricians detect potential malformations and diseases. While exams are routinely carried out for mothers seeking prenatal care, around 50% of malformations go undetected before birth. Some conditions are detected after birth; in some cases, they can remain undetected until several years after birth. This is because current screening methods are not accurate enough.
Companies have identified the gap in accurate early detection of birth defects and have developed technologies to improve prenatal screening using ultrasound. An impactful company that we would like to highlight and that has gained interest in the last few years is Sonio. Sonio has developed software that provides prenatal medicine practitioners with medical, imaging, genetic and environmental data to optimize prenatal screening and diagnosis. Sonio aims to support ultrasound exams providing reassurance that everything has been looked at and nothing is missed; if there is something unusual, the technology promises both detection of the abnormality and diagnosis of the pathology.
Having a correct diagnosis through pregnancy could have a tremendous impact on the medical outcome for the mother and the child.
With all recent advancements in treating birth defects, some anomalies can be taken care of during pregnancy. Surgeons can conduct fetal surgery. Or, specialists can recommend hormonal treatments. Most often, however, these conditions need to be dealt with during the first hours after birth; having a diagnosis during pregnancy can improve outcomes by allowing medical teams to prepare for the care that needs to be delivered immediately after delivery. Earlier diagnosis, prenatal counseling, and anticipating post-natal care in these conditions are important criteria to move the needle for children and their parents.
helping parents cope with difficult clinical circumstances
Having to cope with an unforeseen medical condition in their newborn poses immense challenges for mothers, triggering a whirlwind of emotions such as fear, confusion, anger, and overwhelming emotions. Additionally, if they did not expect the condition because of no prior diagnosis, mothers may experience a sense of unpreparedness, further exacerbating their concerns.
To help mothers who find themselves in the situation of coping with a birth defect of their child, it is important to increase awareness that they are not alone in having to deal with these situations — and that care is available. For this reason, several entities have arisen to improve public awareness of these conditions and provide individuals, parents, and families affected by birth defects the information they need to seek proper care.
We have learned recently that hospitals face the challenge of encouraging parent attachment, especially when the baby is diagnosed with a birth defect. Sant Joan de Déu Hospital recognizes that parents often struggle to connect with their newborns in such clinical circumstances emotionally. This lack of parental attachment also supposes a burden for the hospital since nurses have an excessive workload that often overwhelms them. Therefore, due to their challenges in accepting their child’s condition, parents often struggle to provide the necessary attention newborns require in the Neonatal Intensive Care Unit (NICU).
To address this issue, the hospital has implemented various resources to support and assist parents in navigating their situation. For example, they provide dedicated therapists who actively engage with parents, helping them comprehend the condition and manage their emotions.
This existing gap, which requires urgent attention, highlights the crucial need for mental health solutions for these parents, enabling them to receive the necessary support throughout their journey. Extensive research has consistently demonstrated the positive impact of early skin-to-skin contact on birth experiences, which is particularly significant for newborns with birth defects.
Thus, it is essential to empower parents with valuable information on how maternal support in the initial days after birth is paramount. In hospital settings, nurses and doctors invest considerable time and effort in encouraging families to understand the positive effects of close contact with their newborns. However, it should be acknowledged that each parent’s response is unique and may vary. Nonetheless, this topic deserves greater attention and exploration, as it represents a crucial aspect currently underexplored and poorly understood.
Research from Penn Nursing and CHOP argues that skin-to-skin contact should become routine. Diane Spaz of Penn’s School of Nursing and CHOP argued how…
“Babies with cardiac defects should be held skin to skin, and mothers should be encouraged to do kangaroo care.”
“Just because your baby has a birth defect does not mean that your baby should not have the opportunity to benefit from things that other babies benefit from.”
Decades of research confirm the advantages of such contact for newborns, and it should be integrated into the NICU setting and encourage parents of the positive effects of this practice.
We have met several companies on the mission to improve maternal health, providing a wide range of services, including prenatal visits, virtual classes, delivery and fourth-trimester care, and more. In our experience, however, almost all neglect to fill this important gap.
reducing Congenital Heart Disease (CHD) delayed diagnosis
When discussing birth defects, it is crucial to emphasize the significant occurrence of congenital heart malformations among various anomalies.
CHDs are the most common type of birth defect, affecting nearly 1% of all babies born in the United States.
Moreover, CHD is the leading cause of global mortality and accounts for the largest proportion of all birth defects.
Although the global prevalence of congenital heart disease may seem modest at first, its impact on parents and their children is tremendous. CHD poses a high economic burden for healthcare entities since the treatment options are expensive and lifetime needed. Hospitalizations of patients with a CHD make up 3.7% of all hospitalizations in the United States for children and adolescents aged 0–20 years. Hospital costs for patients with a CHD exceeded $5.6 billion in 2009. Therefore, costs were 15.1% of the total costs for all U.S. hospitalizations for children and adolescents aged 0–20 years.
The impact of CHD on the healthcare system is even higher because approximately 50% of cases of congenital heart malformations are missed, diagnosed, or delayed, causing significant morbidity and mortality to the parents and patients.
In the past years, the survival and quality of life of children with CHD have improved due to recent advancements in cardiac surgery. However, to properly treat these patients, it is crucial to have an early diagnosis since delayed diagnosis is associated with cardiovascular compromise and organ dysfunction leading to prolonged ventilation and mortality among neonates undergoing cardiac surgery.
During pregnancy, fetal cardiac function is assessed through fetal echocardiography. This procedure has evolved toward the quantitative assessment of cardiac dimensions, which evaluates the shape and function of the heart. These quantitative measurements have been demonstrated to be helpful in diagnosing these conditions. For this reason, some companies are using artificial intelligence to improve the acquisition of these measurements and enhance the detection of these abnormalities.
The main challenge with fetal ultrasound is obtaining an optimal image of the fetal heart, which is crucial to assess cardiac structure and function. It is challenging because the fetus is continuously moving and because of its size, which is much smaller than a normal heart.
At Nina Capital, we have seen a few companies in the space trying to solve this underserved problem by building AI to enhance the detection of these heart malformations. In our opinion, the main challenge we see when evaluating these companies is the importance of having a high specificity and sensitivity since having false positive cases can cause great stress to the mother and unnecessarily complicate the pregnancy.
our call to action
While we celebrate all our industry's progress in the last few decades, there is room for improvement in prenatal and maternal care. We are motivated to keep studying opportunities for sustainable technology innovation that meaningfully moves the needle in outcomes. If you are a founder building a unique technology in the prenatal space, please — reach out through our website; we look forward to hearing from you.
by Adriana
