Skip to content
  • Argentina
  • Brazil
  • Canada
  • Chile
  • Colombia
  • Europe
  • France
  • Germany
  • India
  • Italy
  • Japan
  • Korea
  • Mexico
  • Perú
  • Russia
  • Spain
  • Taiwan
  • The Middle East
  • Turkey
  • United Kingdom
  • United States
  • Vietnam
  • Country/Region
    • Clinic Portal
      • +0034963905310
    • Request Information
    • +34 96 390 53 10
    InternationalInternational
    • Country/Region
    • We guide you
      • Fertility
        • What to do if…
      • Prevent Inherited Diseases
        • Carrier Genetic Test
      • Worry-free Pregnancy
        • NACE
        • Prenatal Diagnostics
        • Newborn Health
    • Reproductive Health
      • Specialists
        • ALICE
        • EMMA
        • ERA
        • EndomeTRIO
        • EMBRACE
        • CGT
        • NACE
        • Zenit
        • PGT-A
        • PGT-M
        • POC
        • SAT
        • Newborn Screening
      • Patients
        • ALICE
        • EMMA
        • ERA
        • EndomeTRIO
        • EMBRACE
        • CGT
        • NACE
        • Zenit
        • PGT-A
        • PGT-M
        • SAT
        • POC
    • Diagnostics
    • About us
      • Igenomix Research
      • About Igenomix
    • Academy
    • Blog
        Genomics Precision Diagnostic > Prenatal

        Prenatal

        Diagnostic test based on NGS of multiple genes associated with a disease, condition or phenotype.

        Panels

        Congenital Heart Defects Precision Panel

        Congenital Heart Defects (CHD) are the most common type of birth defect. They include abnormalities in heart structure that occur before birth. These defects occur in the foetus while it is developing in the uterus during pregnancy. 

        More Information

        Congenital Hepatic Fibrosis Precision Panel

        Congenital hepatic fibrosis (CHF) is an inherited or genetic condition that affects the liver and its function. Though CHF can present individually it is often associated with other disorders that can affect kidney function (hepatorenal fibrocystic disease).

        More Information

        Disorders of Sex Development Precision Panel

        Disorders of Sex Development (DSD), formerly termed intersex conditions, occur when there is a discrepancy between the appearance of the genitalia and the genetic makeup of an individual. These disorders can present from birth to adolescence.

        More Information

        Embryo Developmental Arrest Precision Panel

        Embryo Developmental Arrest (EDA) is one of the mechanisms responsible for an increased level of embryo demise during the first week of in vitro development. Around 10-15% embryos permanently arrest in mitosis at the 2-to 4-cell cleavage stage.

        More Information

        Oligohydramnios Precision Panel

        Oligohydramnios is defined as an abnormally low volume of amniotic fluid. Amniotic fluid is crucial for fetal development and growth, serving as protection to the fetus from trauma and infection as well as helping in the development of the fetal lungs.

        More Information

        Omphalocele and Gastroschisis Precision Panel

        Omphalocele, also known as exomphalos, is a midline abdominal wall defect at the base of the umbilical cord where herniation of abdominal contents takes place. The herniated organs are covered by the parietal peritoneum.

        More Information

        Primary Microcephaly Precision Panel

        Microcephaly is generally defined as a small head size, typically greater than two standard deviations below normal, as measured via occipital frontal circumference, using a measuring tape. Microcephaly is a clinical sign and not a disease.

        More Information

        Recurrent Pregnancy Loss  Precision Panel

        Recurrent Pregnancy Loss (RPL) is one of the most common obstetric complications, affecting more than 30% of conceptions. These can occur during preimplantation, pre–embryonic, embryonic, early fetal, late fetal and stillbirth. 

        More Information

        Skeletal Dysplasias Precision Panel

        Skeletal Dysplasias, also known as osteochondrodysplasias, are a clinically and phenotypically heterogeneous group of more than 450 inherited disorders characterized by abnormalities mainly of cartilage and bone growth although they can also affect muscle, tendons and ligaments, resulting in abnormal shape and size of the skeleton and disproportion of long bones, spine and head.

        More Information

        Noonan Spectrum Disorders and RASopathies Precision Panel

        Noonan Syndrome is a genetic disorder that impairs normal development of several parts of the body. The main features of Noonan Syndrome include unusual facies (hypertelorism, down-slanting eyes, webbed neck), congenital heart disease, short stature and chest deformity. Intellectual disabilities can be seen in approximately 25% of individuals affected by Noonan syndrome. 

        More Information

        Meckel-Gruber Syndrome Precision Panel

        Meckel-Gruber Syndrome (MKS) is a lethal, autosomal recessive neurodevelopmental condition characterized by a triad of symptoms which are occipital encephalocele, large polycystic kidneys and postaxial polydactyly. It is caused by mutations in genes encoding proteins that allow an appropriate structure and function of the primary cilium. 

        More Information

        Lissencephaly Precision Panel

        Lissencephaly, also known as smooth brain, is a malformation of the cerebral cortex associated with an abnormal neuronal migration and development of cerebral convolutions or gyri. There can be absent gyri (agyria) or abnormally wide gyri (pachygyria) alongside abnormally thick and poorly organized cortex, diffuse neuronal heterotopia, dysmorphic ventricles and often failure of the corpus callosum to develop.

        More Information

        Joubert Syndrome and Related Disorders  Precision Panel

        Joubert Syndrome (JS) and Related Disorders (JSRD) are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Cilia play a crucial role in appropriate axonal growth and connectivity which are essential for functional wiring of the brain.

        More Information

        Increased Nuchal Translucency Precision Panel

        Increased Nuchal Translucency (NT) is defined as an abnormal accumulation of fluid in the nuchal area, which is visualized as a thickened sonolucent area. It is a standardized measure obtained between 11 and 14 weeks of gestation to calculate the risk of a fetus being affected by a chromosomal aneuploidy.

        More Information

        Hydrops Fetalis Precision Panel

        Hydrops fetalis or fetal hydrops is a lethal fetal condition defined as abnormal accumulation of fluid in two or more fetal compartments presenting as ascites, pleural effusion, pericardial effusion and skin edema. It may also be associated with polyhydramnios and placental edema. 

        More Information

        Arthrogryposis and Congenital Myasthenic Syndrome Precision Panel

        Arthrogryposis or arthrogryposis multiplex congenita (AMC) is a group of nonprogressive conditions characterized by multiple joint contractures found throughout the body at birth. It usually appears as a feature of other neuromuscular conditions or part of systemic diseases. 

        More Information

        Gonadal Dysgenesis Precision Panel

        Gonadal Dysgenesis comprises a clinical spectrum of anomalies in patients with female, ambiguous or male phenotype, absent or impaired puberty and karyotype with or without Y chromosome. 

        More Information

        Kallmann Syndrome Precision Panel

        Kallmann Syndrome (KS) is a rare genetic disorder that belongs to the spectrum of isolated hypogonadotropic hypogonadism. This decrease in gonadal function is due to a failure in differentiation or migration of neurons that embryologically arise in the olfactory mucosa and travel to the hypothalamus.

        More Information

        Craniosynostosis Precision Panel

        Craniosynostosis is defined as the premature fusion of one or more cranial sutures, often resulting in abnormal head shape. It is a developmental craniofacial anomaly resulting from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis).

        More Information

        Cleft Lip and Palate Precision Panel

        Cleft Lip and Palate (CLP) are a group of malformations of unknown etiology with overlapping phenotypes affecting both females and males. They are the most common congenital malformations of the craniofacial region. Cleft lip and palate can be an isolated finding (non-syndromic), or they can present as a syndromic form. 

        More Information

        Ventriculomegaly Precision Panel

        Ventriculomegaly is the term used to describe ventricular dilation unrelated to increased cerebrospinal fluid pressure, such as dilation due to brain dysgenesis or atrophy. Also known as hydrocephalus, which is described as the pathological dilation of the brain’s ventricular system, these terms are used interchangeably. 

        More Information

        BROCHURE

        Download

        Request Information


        WE GUIDE YOU

        Fertility
        Inherited diseases prevention
        Healthy pregnancy

        To see the accreditation certificate, associated technical annex and list of accredited tests, click on this link.

        OUR SERVICES

        Genetic solutions
        For patients
        How to send a sample?
        User manual

        ABOUT US

        About Igenomix
        Contact
        Quality
        Complaints
        Work with us

        FOLLOW IGENOMIX

          + 96 390 53 10
          Write us
        • Argentina
        • Brazil
        • Canada
        • Chile
        • Colombia
        • Europe
        • France
        • Germany
        • India
        • Italy
        • Japan
        • Korea
        • Mexico
        • Perú
        • Russia
        • Spain
        • Taiwan
        • The Middle East
        • Turkey
        • United Kingdom
        • United States
        • Vietnam
        Country/Region

        [2021] © Igenomix Privacy policy Quality policy Legal note Cookies policyNews and Press

        Request Information


        • We guide you
          • Fertility
            • What to do if…
          • Prevent Inherited Diseases
            • Carrier Genetic Test
          • Worry-free Pregnancy
            • NACE
            • Prenatal Diagnostics
            • Newborn Health
        • Reproductive Health
          • Specialists
            • ALICE
            • EMMA
            • ERA
            • EndomeTRIO
            • EMBRACE
            • CGT
            • NACE
            • Zenit
            • PGT-A
            • PGT-M
            • POC
            • SAT
            • Newborn Screening
          • Patients
            • ALICE
            • EMMA
            • ERA
            • EndomeTRIO
            • EMBRACE
            • CGT
            • NACE
            • Zenit
            • PGT-A
            • PGT-M
            • SAT
            • POC
        • Diagnostics
        • About us
          • Igenomix Research
          • About Igenomix
        • Academy
        • Blog
        • Country/Region
        • +34 96 390 53 10
        • Clinic Portal
        • Request Information

        We are using cookies to give you the best experience on our website.

        You can find out more about which cookies we are using or switch them off in settings.

        International
        Powered by  GDPR Cookie Compliance
        Privacy Overview

        This website uses cookies so that we can provide you with the best user experience possible. Cookie information is stored in your browser and performs functions such as recognising you when you return to our website and helping our team to understand which sections of the website you find most interesting and useful.

        Strictly Necessary Cookies

        Strictly Necessary Cookie should be enabled at all times so that we can save your preferences for cookie settings.

        If you disable this cookie, we will not be able to save your preferences. This means that every time you visit this website you will need to enable or disable cookies again.

        3rd Party Cookies

        This website uses Google Analytics to collect anonymous information such as the number of visitors to the site, and the most popular pages.

        Keeping this cookie enabled helps us to improve our website.

        Please enable Strictly Necessary Cookies first so that we can save your preferences!

        Cookie Policy

        More information about our Cookie Policy