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Placental Mosaicism and Pregnancy Outcomes

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Placental mosaicism is a genetic abnormality within the placenta due to chromosomal abnormalities that result in birth defects. Read to learn more.

Written by

Dr. Varshini

Medically reviewed by

Dr. Sanap Sneha Umrao

Published At September 19, 2023
Reviewed AtMarch 21, 2024


The placenta plays a critical role in supporting a healthy pregnancy, providing essential nutrients and oxygen to the developing fetus. However, emerging research has shed light on a fascinating phenomenon known as placental mosaicism, where the placental tissue contains distinct genetic abnormalities not found in the fetus. Placental mosaicism presents a complex and intriguing puzzle for scientists and healthcare professionals alike. Understanding its implications on pregnancy outcomes is crucial for providing appropriate care to expectant mothers and their unborn babies.

What Is Placental Mosaicism?

Placental mosaicism refers to the presence of genetic abnormalities within the placental tissue that are not present in the fetus. This condition arises due to chromosomal abnormalities occurring during the early stages of embryo development, leading to the emergence of distinct cell lineages within the placenta. These divergent cell populations can exhibit varying degrees of genetic abnormalities, resulting in a mosaic pattern.

Placental mosaicism can manifest in different forms, such as trisomies (for example, Down syndrome), structural abnormalities, or numerical abnormalities of chromosomes. It is important to note that placental mosaicism is distinct from fetal mosaicism, where genetic abnormalities are found within the fetus but not in the placenta.

What Is Confined Placental Mosaicism?

Confined placental mosaicism is defined as the presence of chromosomal abnormalities in the extra-embryonic tissue that are absent from the fetal tissue.

What Are the Causes of Placental Mosaicism?

While the exact mechanisms are not fully understood, several factors have been proposed to contribute to the development of placental mosaicism. Some of the potential causes include:

  • Post-Zygotic Errors: Placental mosaicism can arise from errors that occur after fertilization and subsequent cell division during early embryo development. These errors can lead to chromosomal abnormalities in specific cell lineages within the placenta, resulting in a mosaic pattern. The reasons behind these errors are not yet fully understood but could involve issues such as DNA replication errors or problems during cell division.

  • Mitotic Errors: Abnormalities in cell division during placental development can also lead to placental mosaicism. Unequal distribution of chromosomes during mitosis can result in the presence of different cell populations with varying genetic abnormalities within the placenta. Factors such as advanced maternal age and exposure to certain environmental agents, and genetic predispositions may contribute to the occurrence of mitotic errors.

  • Placental Self-Correction: The placenta has the remarkable ability to self-correct certain chromosomal abnormalities during its development. This self-correction mechanism may explain cases where placental mosaicism does not affect the fetus.

It is important to note that the causes of placental mosaicism can be multifactorial, involving a combination of genetic, environmental, and developmental factors.

What Is the Impact on Pregnancy Outcomes?

Understanding the impact of placental mosaicism on pregnancy outcomes is essential for prenatal care and counseling. The consequences can vary depending on the extent and type of genetic abnormalities present in the placenta.

  • No Impact on Fetal Development: In some cases, placental mosaicism does not affect the fetus, and a healthy baby is born. This phenomenon is known as confined placental mosaicism (CPM). However, close monitoring throughout the pregnancy is still necessary due to the potential risk of fetal growth restriction or other complications.

  • Increased Risk of Pregnancy Complications: Placental mosaicism has been associated with an increased risk of adverse pregnancy outcomes, including preterm birth, intrauterine growth restriction, preeclampsia, and stillbirth. The presence of specific chromosomal abnormalities, such as trisomy 16, has been linked to a higher risk of complications.

  • Diagnostic Challenges: Placental mosaicism poses diagnostic challenges for prenatal screening and testing. Noninvasive prenatal testing (NIPT) and ultrasound screenings may not accurately detect genetic abnormalities present only in the placenta. In such cases, invasive diagnostic procedures like chorionic villus sampling(CVS) or amniocentesis may be required to assess fetal genetic health.

  • Need for Counseling and Management: When placental mosaicism is detected, healthcare professionals should provide comprehensive counseling to expectant parents. This includes discussing the nature of placental mosaicism, potential risks, and available diagnostic options. Regular monitoring throughout the pregnancy, including ultrasound examinations, is crucial to identify any signs of fetal growth restriction or other complications.

How Is Confined Placental Mosaicism Diagnosed?

The diagnosis of confined placental mosaicism is made most commonly after the diagnosis of chromosomal mosaicism in a chorionic villus sample, the second prenatal testing shows a normal diploid karyotype.

What Are the Complications of Placental Mosaicism?

Some of the potential complications associated with placental mosaicism:

  • Intrauterine Growth Restriction: This condition occurs when the fetus fails to reach its expected growth potential, resulting in a smaller-than-expected size for gestational age. This can lead to complications such as low birth weight, inadequate nutrient supply to the fetus, and an increased risk of perinatal morbidity and mortality.

  • Preterm Birth: Placental mosaicism has been associated with a higher risk of preterm birth, which refers to the delivery of a baby before completing the full term of gestation (37 weeks). Preterm birth can result from the placenta's compromised ability to support the developing fetus adequately. It can lead to various health problems for the newborn, including respiratory distress, developmental challenges, and an increased risk of long-term disabilities.

  • Preeclampsia: This is characterized by high blood pressure and organ damage, typically developing after the 20th week of pregnancy. Preeclampsia can negatively affect both the mother and the fetus, leading to restricted fetal growth, placental abruption, preterm birth, and maternal complications such as organ failure and eclampsia (seizures).

  • Stillbirth: The presence of genetic abnormalities within the placenta can disrupt its function, impair fetal development, and increase the risk of fetal demise.

  • Chromosomal Abnormalities: Depending on the specific genetic abnormalities present in the placenta, there may be an increased risk of birth defects and genetic disorders in the developing fetus. Placental mosaicism can involve various types of chromosomal abnormalities, such as trisomies (for example, Down syndrome), monosomies, or structural abnormalities of specific chromosomes. The presence of these chromosomal abnormalities in the placenta can pose a risk to the developing fetus and may result in birth defects, intellectual disabilities, or other genetic disorders.


Placental mosaicism is a complex and intriguing phenomenon that adds a layer of complexity to prenatal care and understanding pregnancy outcomes. Advances in genetic testing techniques and imaging technologies may help improve the ability to identify and understand placental mosaicism, leading to better management of pregnancy complications associated with this condition. By continuing to explore the complexities of placental mosaicism, pave the way for enhanced prenatal care, more accurate risk assessments, and personalized management strategies that can optimize the health and well-being of mother and child.

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Dr. Sanap Sneha Umrao
Dr. Sanap Sneha Umrao

Obstetrics and Gynecology


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