Tag Archives: baby

Understanding Patau Syndrome

We all know about down syndrome but it isn't the only thing you need to watch for when you are pregnant at 30 or older - learn about Patau Syndrome

My husband and I are very happy with the size of our family, but sometimes we can’t help but get baby fever.  Although we have no intentions of making our littlest become a big brother, it could happen.  It would be a blessing and we would be grateful for the addition to our family, but baby development is often a big concern when you are 30 years or older so that is something we need to be aware of.

The correlations between advanced maternal age and the incidence of Down syndrome is commonly discussed, but there are other syndromes associated with advanced maternal age that are not as widely known. Trisomy disorders are the most common chromosomal disorders of babies born to mothers of 35 years and older.

Each individual has 23 pairs of chromosomes – 22 pairs of autosomal chromosomes and 1 pair of sex chromosomes. When fragments of chromosomes are deleted, duplicated, inverted, or translocated, chromosomal abnormalities occur. A trisomy disorder is a duplication abnormality characterized by three copies of a chromosome, instead of the typical pair. Patau syndrome manifests as a trisomy of chromosome 13.

 

How Common is Patau Syndrome?

Each year, 1 in 16,000 babies are affected by Patau syndrome. The risk of a baby developing Patau syndrome is significantly increased at the maternal age of 35 and increases each year onward.

 

Signs and Symptoms of Patau Syndrome

Characteristics of Patau syndrome include:

  • Cleft palate or cleft lip
  • Clenched hands
  • Extra fingers and toes
  • Eyes that are set closer together
  • Ears that are set low
  • Small head

 

How Does Patau Syndrome Occur?

According to genetics.edu.au, the chromosomal problem in trisomy 13 is typically due to an egg cell containing an additional copy of chromosome 13. When the egg is fertilized by a sperm cell, the result is 47 chromosome rather than the typical 46.

Trisomy 13 can manifest in one of the following ways:

  1. a)  Non-disjunction – When all of the individual’s cells have 3 chromosome 13s. This is referred to as Trisomy 13.
  2. b)  Mosaicism – When only some of the individual’s cells have 3 chromosome 13s. This is referred to Trisomy 13 mosaicism.
  3. c)  Translocation – When cells contain part of an extra chromosome 13. This is referred to as a partial trisomy.

 

Diagnosing Patau Syndrome

Prenatal Screening

Prenatal ultrasounds may show evidence of extreme physical abnormalities, such as limb and organ deformations, which may indicate a likelihood of Patau syndrome. Prenatal trisomy tests may also be used to assess the risk that your child may have a chromosomal abnormality. Non-invasive prenatal DNA testing options that require only a blood draw from the biological mother are also available.

 

Diagnostic testing

If screening tests show that there is a high probability your child has a chromosomal abnormality, more than likely your physician may present you with diagnostic testing options. Some of your options may include invasive procedures, such as chorionic villus sampling (CVS) or amniocentesis.

For couples who have a family history of genetic disease, or a previous pregnancy with a genetic disease, it is a good idea to speak with your healthcare provider or a genetic counselor to better understand if prenatal tests should be considered.

 

Incredibundles: Your new source of baby gifts!

 

Incredibundles is the only baby gift basket service you need!

 

It’s coming up on that time of year again – finding the perfect gifts for the special little ones in your life.  Whether it’s the holidays, birthdays, or new additions to the family, gift baskets are always a fun way to give something thoughtful and with enough variety to keep their attention for more than a day.  Enter IncrediBundles!

IncrediBundles sells various bundles of age appropriate gifts with multiple themes.  From diaper bundles to bath bundles, learn-and-grow to sleep time, they’ve got every situation covered!  You can even create your own unique bundle.  We’ve previously reviewed a Book Bundle and our kids absolutely loved it.  Some of the books are still a part of their bedtime routine!

 

A wide variety of baby gift baskets are available for you to choose from or even create your own unique box!

 

And perhaps the best part is that, as any parent (or cat owner) knows, the box often gets as much attention as the contents.  The box we received was a larger box, very sturdy, with snaps to hold everything in place.  When you need to store it away, you can unsnap the box apart and fold it flat.  Then when you need to use it, snap it back together!  It has stood up to our kids much longer than a typical cardboard box, and is still in their bedroom holding toys.  Plus it’s adorable with a decorative alphabet printed along the inside and outside of the box.  Making the box a part of the gift just makes it all the more special.

Just look how adorable these storage boxes are!

 

Make sure to keep IncrediBundles in mind when gift shopping this year.  You can even order a subscription to deliver age appropriate boxes at regular intervals, giving gifts that continuously grow and develop with your little ones to keep them stimulated!

 

A wide variety of baby gift baskets are available for you to choose from or even create your own unique box!

Disclosure:  We were provided a complimentary product or payment in return for an honest review.

We are ready for 2015 Holiday Gift Guide Submissions!

Join our holiday gift guide to give your products more exposure before Christmas!

 

My favorite of the year is on it’s way and I am so excited!  In celebration, we will be putting together a holiday gift guide to show you some of our favorite products, newly released products, and other gift ideas!

Readers: Stay tuned for our gift guide!  We’ve already started trying out new products to see whether they are worthy of a spot.  Feel free to comment with your recommendations!

PR/Brands: Do you have products that would make great Christmas presents or stocking stuffers this year?  I would love to collaborate with you and find out just what you have in mind!  Please email us at FamilyCentsability@gmail.com and we will get back to you as soon as possible.

 

Types of gifts we would like to include:

  • Toys, kid’s apparel, accessories, etc (any age accepted, however we are most able to try and photograph those for boys aged 3-5) – superheroes are a plus!
  • Electronics, accessories (i.e. new releases of Xbox One games for teens/dads, games for the family and kids, etc)
  • Gift baskets
  • Home decor
  • Gifts for moms and dads, grandparents
  • Unique gifts (handmade, personalized, etc)
  • Stocking stuffers

 

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